D31D (p.Asp31Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
D31D (p.Asp31Asp) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D31D (p.Asp31Asp) variant details
- p.Asp31Asp
- rs376679438
- gnomAD 11-119206510-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 13.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.703
- Literature evidence available