G18V (p.Gly18Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G18V (p.Gly18Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- cosmic curated COSV99875
- gnomAD rs1453694966
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.92
- CADD 23.10
- PolyPhen-2 0.05
- 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 -0.122