P8S (p.Pro8Ser) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P8S (p.Pro8Ser) 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 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- rs2144325752
- ClinGen CA402715025
- ClinVar RCV001921486
- Ensembl rs2144325752
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.03
- ESM-1b 0.26
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.97
- CADD 18.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.692