D36N (p.Asp36Asn) variant of ABL1 (Tyrosine-protein kinase ABL1)
D36N (p.Asp36Asn) in ABL1 (Tyrosine-protein kinase ABL1) 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 0.40 / 1. The record also includes population frequency data and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs1423422276
- NCI-TCGA Cosmic COSV5933
- cosmic curated COSV59338
- TOPMed rs1423422276
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- MetaLR 0.17
- MetaSVM -0.95
- CADD 29.30
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available