S66G (p.Ser66Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S66G (p.Ser66Gly) 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 provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S66G (p.Ser66Gly) variant details
- p.Ser66Gly
- rs1352969867
- ClinGen CA368181416
- ClinVar RCV002036701
- ClinVar RCV004897732
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.86
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available