E54K (p.Glu54Lys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E54K (p.Glu54Lys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- ExAC rs749659281
- TOPMed rs749659281
- gnomAD rs749659281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.27
- MetaSVM -0.69
- CADD 22.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available