P35S (p.Pro35Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
P35S (p.Pro35Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- Ensembl rs2135244155
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.29
- MetaLR 0.17
- MetaSVM -0.90
- CADD 23.60
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.03