E89K (p.Glu89Lys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
E89K (p.Glu89Lys) 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 0.39 / 1. The record also includes population frequency data and structural context.
E89K (p.Glu89Lys) variant details
- p.Glu89Lys
- NCI-TCGA Cosmic COSV5015
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.90
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available