V65A (p.Val65Ala) variant of CYP2B6 (Cytochrome P450 2B6)
V65A (p.Val65Ala) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V65A (p.Val65Ala) variant details
- p.Val65Ala
- gnomAD 19-41004023-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.63
- MetaLR 0.65
- MetaSVM 0.03
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available