I26V (p.Ile26Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
I26V (p.Ile26Val) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- TOPMed rs1592364629
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.80
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.193