G21S (p.Gly21Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G21S (p.Gly21Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- gnomAD 11-119206478-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.86
- CADD 22.00
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.486
- Literature evidence available