M1V (p.Met1Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
M1V (p.Met1Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes experimental measurements and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs909098732
- ClinGen CA382975506
- ClinVar RCV002766012
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- MetaLR 0.24
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.529