G13D (p.Gly13Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G13D (p.Gly13Asp) 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, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- ExAC rs776906066
- gnomAD rs776906066
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.98
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.447