S17Y (p.Ser17Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
S17Y (p.Ser17Tyr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- gnomAD rs1222060551
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- MetaLR 0.21
- MetaSVM -0.84
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.36