K73E (p.Lys73Glu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
K73E (p.Lys73Glu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
K73E (p.Lys73Glu) variant details
- p.Lys73Glu
- gnomAD rs1196820903
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.27
- MetaSVM -0.48
- CADD 25.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available