E57D (p.Glu57Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E57D (p.Glu57Asp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- Ensembl rs1600177838
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.33
- MetaSVM -0.46
- CADD 21.10
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available