G6R (p.Gly6Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G6R (p.Gly6Arg) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- TOPMed rs1345758274
- gnomAD rs1345758274
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.00
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.317