E54Q (p.Glu54Gln) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E54Q (p.Glu54Gln) 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 0.46 / 1. The record also includes population frequency data and structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- ExAC rs749659281
- TOPMed rs749659281
- gnomAD rs749659281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.22
- ESM-1b 0.80
- AlphaMissense 0.23
- MetaLR 0.31
- MetaSVM -0.62
- CADD 23.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available