G23S (p.Gly23Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G23S (p.Gly23Ser) 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.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- gnomAD 11-119206484-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.406
- Literature evidence available