A11P (p.Ala11Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11P (p.Ala11Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- rs756706636
- gnomAD 11-119206444-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 25.30
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02
- Literature evidence available