G17R (p.Gly17Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G17R (p.Gly17Arg) 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 0.48 / 1. The record also includes experimental measurements and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs2146617418
- ClinGen CA402715199
- cosmic curated COSV10721
- ClinVar RCV001922076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.06
- MetaSVM -1.12
- PolyPhen-2 0.58
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.986