S17C (p.Ser17Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
S17C (p.Ser17Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 11-119206467-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.30
- CADD 22.20
- PolyPhen-2 0.24
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.36
- Literature evidence available