V506A (p.Val506Ala) variant of ABL1 (Tyrosine-protein kinase ABL1)
V506A (p.Val506Ala) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Microcephaly; Congenital heart defects and skeletal malformations syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
V506A (p.Val506Ala) variant details
- p.Val506Ala
- rs1831432776
- ClinGen CA375251758
- ClinVar RCV001263087
- ClinVar RCV001527376
- Pathogenic/Likely pathogenic
- Microcephaly; Congenital heart defects and skeletal malformations syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.96
- MetaLR 0.57
- MetaSVM 0.17
- PolyPhen-2 0.80
- SIFT 0.01
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Microcephaly; Congenital heart defects and skeletal malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available