E7D (p.Glu7Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E7D (p.Glu7Asp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs551206250
- ClinGen CA8975051
- ClinVar RCV003863938
- 1000Genomes rs551206250
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.90
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.395