P784L (p.Pro784Leu) variant of ABL1 (Tyrosine-protein kinase ABL1)
P784L (p.Pro784Leu) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital heart defects and skeletal malformations syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P784L (p.Pro784Leu) variant details
- p.Pro784Leu
- rs1355021408
- ClinGen CA375256045
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10058
- Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.20
- MetaLR 0.06
- MetaSVM -1.10
- CADD 23.60
- PolyPhen-2 0.95
- SIFT 0.15
- ClinVar: Likely pathogenic (Congenital heart defects and skeletal malformations syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available