G24A (p.Gly24Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
G24A (p.Gly24Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- rs1188757026
- ClinGen CA382975946
- ClinVar RCV002370852
- ClinVar RCV003776365
- Conflicting interpretations
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.28
- MetaLR 0.17
- MetaSVM -0.94
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.672