G24S (p.Gly24Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G24S (p.Gly24Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- gnomAD rs1486468563
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- MetaLR 0.19
- MetaSVM -0.86
- CADD 23.90
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.672