A11D (p.Ala11Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11D (p.Ala11Asp) 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 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- rs1302101624
- ClinGen CA382975706
- ClinVar RCV003654706
- TOPMed rs1302101624
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.41
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.95
- CADD 23.20
- 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-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02