G17A (p.Gly17Ala) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G17A (p.Gly17Ala) 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 0.25 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- ExAC rs777085204
- TOPMed rs777085204
- gnomAD rs777085204
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.00
- CADD 19.10
- PolyPhen-2 0.12
- SIFT 0.76
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available