K65R (p.Lys65Arg) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
K65R (p.Lys65Arg) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- gnomAD rs1461734631
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.26
- MetaLR 0.31
- MetaSVM -0.72
- CADD 24.30
- PolyPhen-2 0.05
- SIFT 0.11
- Population evidence available
- Structural context available