G19V (p.Gly19Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G19V (p.Gly19Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 11-119206473-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.525
- Literature evidence available