D103N (p.Asp103Asn) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
D103N (p.Asp103Asn) 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 0.65 / 1. The record also includes population frequency data and structural context.
D103N (p.Asp103Asn) variant details
- p.Asp103Asn
- rs765817235
- ExAC rs765817235
- gnomAD rs765817235
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.50
- MetaSVM -0.29
- CADD 33.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available