A2A (p.Ala2Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
A2A (p.Ala2Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous 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.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs770473070
- gnomAD 11-119206423-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 13.90
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.305
- Literature evidence available