A337T (p.Ala337Thr) variant of ABL1 (Tyrosine-protein kinase ABL1)
A337T (p.Ala337Thr) 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 Congenital heart disease; Abnormal skeletal morphology; Failure to thrive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A337T (p.Ala337Thr) variant details
- p.Ala337Thr
- rs1060499548
- ClinGen CA16609341
- cosmic curated COSV10738
- ClinVar RCV000445566
- Pathogenic
- Congenital heart disease; Abnormal skeletal morphology; Failure to thrive
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.50
- MetaLR 0.29
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.74
- ClinVar: Pathogenic (Congenital heart disease; Abnormal skeletal morphology; Failure)
- EBI: Pathogenic (in CHDSKM)
- UniProt: Pathogenic (in CHDSKM)
- Structural context available
- Cited in: Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal… (PMID 28288113)
- Cited in: The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations… (PMID 32643838)