S113I (p.Ser113Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S113I (p.Ser113Ile) 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 0.49 / 1. The record also includes population frequency data and structural context.
S113I (p.Ser113Ile) variant details
- p.Ser113Ile
- rs1217133917
- ClinGen CA402548240
- ClinVar RCV001751873
- TOPMed rs1217133917
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- ESM-1b 0.98
- AlphaMissense 0.22
- MetaLR 0.20
- MetaSVM -0.91
- PolyPhen-2 0.86
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available