E58K (p.Glu58Lys) variant of EZH1 (Q92800)
E58K (p.Glu58Lys) in EZH1 (Q92800) 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 0.45 / 1. The record also includes structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs867021719
- NCI-TCGA Cosmic COSV7055
- cosmic curated COSV70550
- Ensembl rs867021719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.14
- MetaLR 0.46
- MetaSVM -0.36
- PolyPhen-2 0.00
- SIFT 0.65
- MutPred 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available