Y10N (p.Tyr10Asn) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Y10N (p.Tyr10Asn) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y10N (p.Tyr10Asn) variant details
- p.Tyr10Asn
- gnomAD rs1185203471
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.623