V12A (p.Val12Ala) variant of CYP2E1 (Cytochrome P450 2E1)
V12A (p.Val12Ala) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- rs369847743
- gnomAD 10-133527537-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0574
- CADD 1.12
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available