Y10F (p.Tyr10Phe) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Y10F (p.Tyr10Phe) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes experimental measurements and structural context.
Y10F (p.Tyr10Phe) variant details
- p.Tyr10Phe
- ExAC rs760237657
- TOPMed rs760237657
- gnomAD rs760237657
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.08
- SIFT 0.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.623