S9S (p.Ser9Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
S9S (p.Ser9Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- gnomAD 11-119206444-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 12.90
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.594
- Literature evidence available