G63W (p.Gly63Trp) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G63W (p.Gly63Trp) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G63W (p.Gly63Trp) variant details
- p.Gly63Trp
- gnomAD rs1411606857
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.28
- AlphaMissense 0.11
- MetaLR 0.85
- MetaSVM 0.87
- CADD 23.00
- PolyPhen-2 0.87
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available