P230L (p.Pro230Leu) variant of ABL1 (Tyrosine-protein kinase ABL1)
P230L (p.Pro230Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P230L (p.Pro230Leu) variant details
- p.Pro230Leu
- rs1831097846
- ClinGen CA375262830
- ClinVar RCV001175161
- ClinVar RCV004720775
- Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.97
- MetaLR 0.66
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Likely pathogenic (Congenital heart defects and skeletal malformations syndrome; no)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations… (PMID 32643838)