A3V (p.Ala3Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A3V (p.Ala3Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- TOPMed rs1819998530
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.03
- MetaLR 0.21
- MetaSVM -0.89
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available