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V89L Variant

Meaning

The V89L Variant is a specific single nucleotide polymorphism (SNP) within the gene that codes for the Cytochrome P450 17A1 (CYP17A1) enzyme. This genetic change involves the substitution of the amino acid Valine (V) with Leucine (L) at position 89 of the enzyme’s structure. Since CYP17A1 is a pivotal enzyme in the steroidogenesis pathway, catalyzing the conversion of precursors into androgens and estrogens, this variant can subtly influence the overall efficiency of sex steroid hormone production. This subtle change may contribute to individual variations in circulating hormone levels and related disease risks.