I26M (p.Ile26Met) variant of CBL (E3 ubiquitin-protein ligase CBL)
I26M (p.Ile26Met) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- gnomAD rs1949269723
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.42
- MetaLR 0.23
- MetaSVM -0.78
- CADD 22.20
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.193