V107A (p.Val107Ala) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V107A (p.Val107Ala) 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 0.38 / 1. The record also includes population frequency data and structural context.
V107A (p.Val107Ala) variant details
- p.Val107Ala
- rs1275196515
- NCI-TCGA Cosmic COSV5015
- cosmic curated COSV50152
- TOPMed rs1275196515
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- AlphaMissense 0.88
- MetaLR 0.90
- MetaSVM 1.02
- CADD 21.90
- PolyPhen-2 0.96
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available