V6F (p.Val6Phe) variant of CYP2E1 (Cytochrome P450 2E1)
V6F (p.Val6Phe) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- gnomAD 10-133527411-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.22
- MetaLR 0.15
- MetaSVM -0.96
- CADD 12.50
- PolyPhen-2 0.05
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available