G116V (p.Gly116Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G116V (p.Gly116Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G116V (p.Gly116Val) variant details
- p.Gly116Val
- cosmic curated COSV50152
- TOPMed rs1819865693
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.94
- MetaLR 0.85
- MetaSVM 0.94
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available