S8R (p.Ser8Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
S8R (p.Ser8Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- gnomAD 11-119206441-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- CADD 21.90
- PolyPhen-2 0.09
- SIFT 0.16
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.779
- Literature evidence available