V6A (p.Val6Ala) variant of CYP2E1 (Cytochrome P450 2E1)
V6A (p.Val6Ala) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- cosmic curated COSV53315
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -1.00
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available