R88S (p.Arg88Ser) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R88S (p.Arg88Ser) 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 1.00 / 1. The record also includes structural context.
R88S (p.Arg88Ser) variant details
- p.Arg88Ser
- rs2047999945
- ClinGen CA402715907
- ClinVar RCV002469801
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available