E255V (p.Glu255Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
E255V (p.Glu255Val) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lip and oral cavity carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
E255V (p.Glu255Val) variant details
- p.Glu255Val
- rs121913449
- ClinGen CA16602552
- cosmic curated COSV59325
- ClinVar RCV001255639
- Pathogenic
- Lip and oral cavity carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.25
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.71
- ClinVar: Pathogenic (Lip and oral cavity carcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available