G21D (p.Gly21Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G21D (p.Gly21Asp) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- Ensembl rs2135244047
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- MetaLR 0.23
- MetaSVM -0.55
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.486