S103G (p.Ser103Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S103G (p.Ser103Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S103G (p.Ser103Gly) variant details
- p.Ser103Gly
- ExAC rs780364458
- gnomAD rs780364458
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.70
- AlphaMissense 0.04
- MetaLR 0.35
- MetaSVM -0.53
- CADD 28.20
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available