G6E (p.Gly6Glu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G6E (p.Gly6Glu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- gnomAD rs2081489999
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -1.00
- CADD 18.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.317