H396R (p.His396Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
H396R (p.His396Arg) 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 0.59 / 1. The record also includes population frequency data and structural context.
H396R (p.His396Arg) variant details
- p.His396Arg
- rs121913454
- ClinGen CA16602558
- cosmic curated COSV59323
- ClinVar RCV001255640
- Pathogenic
- Lip and oral cavity carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.67
- MetaLR 0.31
- MetaSVM -0.62
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Pathogenic (Lip and oral cavity carcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available