V17A (p.Val17Ala) variant of CYP2A6 (Cytochrome P450 2A6)
V17A (p.Val17Ala) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- ESP rs370605094
- ExAC rs370605094
- TOPMed rs370605094
- gnomAD rs370605094
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.12
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available