E96K (p.Glu96Lys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
E96K (p.Glu96Lys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- NCI-TCGA Cosmic COSV5015
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.98
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.66
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available