S22S (p.Ser22Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
S22S (p.Ser22Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- gnomAD 11-119206483-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.09
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.256
- Literature evidence available