A11V (p.Ala11Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11V (p.Ala11Val) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs1302101624
- ClinGen CA382975711
- ClinVar RCV003540362
- TOPMed rs1302101624
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.21
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.95
- CADD 22.30
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02