A32A (p.Ala32Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
A32A (p.Ala32Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- gnomAD 11-119206513-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 13.30
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.6
- Literature evidence available