M29V (p.Met29Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
M29V (p.Met29Val) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- rs1162552691
- ClinGen CA382976020
- ClinVar RCV003539693
- ClinVar RCV004604963
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.27
- MetaLR 0.15
- MetaSVM -0.96
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.578