G23A (p.Gly23Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
G23A (p.Gly23Ala) 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 0.36 / 1. The record also includes experimental measurements and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- rs2135244064
- ClinGen CA382975927
- ClinVar RCV002378056
- ClinVar RCV003103345
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.84
- MetaLR 0.21
- MetaSVM -0.92
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.406