G17E (p.Gly17Glu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G17E (p.Gly17Glu) 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 0.24 / 1. The record also includes population frequency data and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- ExAC rs777085204
- TOPMed rs777085204
- gnomAD rs777085204
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.02
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available