A14V (p.Ala14Val) variant of CYP2E1 (Cytochrome P450 2E1)
A14V (p.Ala14Val) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs563043306
- NCI-TCGA Cosmic COSV5331
- cosmic curated COSV53314
- 1000Genomes rs563043306
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -0.97
- CADD 2.89
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available