S8I (p.Ser8Ile) variant of CBL (E3 ubiquitin-protein ligase CBL)
S8I (p.Ser8Ile) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- gnomAD 11-119206440-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.22
- AlphaMissense 0.68
- MetaLR 0.32
- MetaSVM -0.47
- CADD 23.40
- PolyPhen-2 0.39
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.779
- Literature evidence available