D109E (p.Asp109Glu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
D109E (p.Asp109Glu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D109E (p.Asp109Glu) variant details
- p.Asp109Glu
- rs758747799
- ClinGen CA300901517
- ClinVar RCV001368754
- ExAC rs758747799
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.27
- ESM-1b 0.12
- AlphaMissense 0.96
- MetaLR 0.14
- MetaSVM -0.76
- CADD 20.50
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available