M29T (p.Met29Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
M29T (p.Met29Thr) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M29T (p.Met29Thr) variant details
- p.Met29Thr
- Ensembl rs1949269894
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.41
- AlphaMissense 0.21
- MetaLR 0.35
- MetaSVM -0.31
- CADD 23.40
- PolyPhen-2 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.578