A2V (p.Ala2Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A2V (p.Ala2Val) in CYP51A1 (Lanosterol 14-alpha demethylase) 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 0.23 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- NCI-TCGA Cosmic COSV5015
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- MetaLR 0.23
- MetaSVM -0.81
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available