G30S (p.Gly30Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G30S (p.Gly30Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- Ensembl rs1819995214
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -1.06
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available