S15C (p.Ser15Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
S15C (p.Ser15Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- gnomAD 11-119206460-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.27
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.09
- Literature evidence available