N83K (p.Asn83Lys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
N83K (p.Asn83Lys) 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 0.22 / 1. The record also includes population frequency data and structural context.
N83K (p.Asn83Lys) variant details
- p.Asn83Lys
- ExAC rs767767265
- TOPMed rs767767265
- gnomAD rs767767265
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.10
- MetaSVM -0.95
- CADD 16.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available