A80D (p.Ala80Asp) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A80D (p.Ala80Asp) 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 0.77 / 1. The record also includes population frequency data and structural context.
A80D (p.Ala80Asp) variant details
- p.Ala80Asp
- NCI-TCGA Cosmic COSV9913
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.78
- MetaLR 0.59
- MetaSVM 0.35
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available