G14D (p.Gly14Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G14D (p.Gly14Asp) 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 RASopathy; CBL-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs868791422
- ClinGen CA10629967
- ClinVar RCV000375826
- ClinVar RCV003654251
- Uncertain significance
- RASopathy; CBL-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- MetaLR 0.23
- MetaSVM -0.79
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy; CBL-related disorder; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.365