K34N (p.Lys34Asn) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
K34N (p.Lys34Asn) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- gnomAD rs1457084325
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.48
- CADD 23.10
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.39