S19Y (p.Ser19Tyr) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S19Y (p.Ser19Tyr) 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 0.70 / 1. The record also includes experimental measurements and structural context.
S19Y (p.Ser19Tyr) variant details
- p.Ser19Tyr
- ESP rs370078893
- ExAC rs370078893
- TOPMed rs370078893
- gnomAD rs370078893
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- ESM-1b 1.00
- AlphaMissense 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.595