S28F (p.Ser28Phe) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S28F (p.Ser28Phe) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, 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 0.92 / 1. The record also includes experimental measurements and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- rs2511820985
- ClinGen CA402715270
- ClinVar RCV002824950
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- ESM-1b 1.00
- AlphaMissense 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.244