E7K (p.Glu7Lys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E7K (p.Glu7Lys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD 18-58044679-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.04
- MetaSVM -1.07
- CADD 24.70
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.395
- Literature evidence available