S113C (p.Ser113Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S113C (p.Ser113Cys) 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 0.29 / 1. The record also includes structural context.
S113C (p.Ser113Cys) variant details
- p.Ser113Cys
- rs2058221483
- ClinGen CA402548229
- ClinVar RCV001323472
- Ensembl rs2058221483
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.26
- MetaSVM -0.66
- PolyPhen-2 0.95
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available