C40G (p.Cys40Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
C40G (p.Cys40Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C40G (p.Cys40Gly) variant details
- p.Cys40Gly
- gnomAD rs1414578203
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- MetaLR 0.14
- MetaSVM -1.02
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available