G3V (p.Gly3Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G3V (p.Gly3Val) 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 not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- rs1362763825
- ClinGen CA382975567
- ClinVar RCV001975309
- ClinVar RCV004728997
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- MetaLR 0.20
- MetaSVM -0.70
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.2