P43S (p.Pro43Ser) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P43S (p.Pro43Ser) 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 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- rs2513448254
- ClinGen CA402715569
- ClinVar RCV003020196
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.60
- CADD 25.10
- 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 -0.192