G13V (p.Gly13Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G13V (p.Gly13Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD 11-119206455-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.17
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.08
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.447
- Literature evidence available