S167G (p.Ser167Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S167G (p.Ser167Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data and structural context.
S167G (p.Ser167Gly) variant details
- p.Ser167Gly
- rs1441786183
- ClinGen CA368178022
- cosmic curated COSV50152
- ClinVar RCV004125279
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.78
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available