G24V (p.Gly24Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G24V (p.Gly24Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- rs1188757026
- ClinGen CA382975943
- ClinVar RCV004430272
- ClinVar RCV005104587
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.42
- MetaLR 0.17
- MetaSVM -0.92
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.672