N83S (p.Asn83Ser) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
N83S (p.Asn83Ser) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N83S (p.Asn83Ser) variant details
- p.Asn83Ser
- rs1471566713
- gnomAD rs1471566713
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.93
- CADD 20.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available