N55K (p.Asn55Lys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
N55K (p.Asn55Lys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N55K (p.Asn55Lys) variant details
- p.Asn55Lys
- TOPMed rs1192088763
- gnomAD rs1192088763
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.15
- MetaSVM -0.92
- CADD 22.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available