G4R (p.Gly4Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G4R (p.Gly4Arg) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- gnomAD 18-58044670-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.03
- MetaSVM -1.04
- CADD 21.90
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.131
- Literature evidence available