S41G (p.Ser41Gly) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S41G (p.Ser41Gly) 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 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S41G (p.Ser41Gly) variant details
- p.Ser41Gly
- rs2036786192
- ClinGen CA402715354
- ClinVar RCV001349564
- TOPMed rs2036786192
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.65
- MetaSVM 0.47
- CADD 32.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -1.18