G12V (p.Gly12Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G12V (p.Gly12Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- Ensembl rs866844579
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.68
- CADD 20.50
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.637