S20S (p.Ser20Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
S20S (p.Ser20Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- gnomAD 11-119206477-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 13.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.898
- Literature evidence available