G19D (p.Gly19Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G19D (p.Gly19Asp) 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 RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- Ensembl rs2135244033
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- MetaLR 0.15
- MetaSVM -0.96
- CADD 23.70
- PolyPhen-2 0.36
- SIFT 0.46
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.525