P8Q (p.Pro8Gln) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P8Q (p.Pro8Gln) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes experimental measurements and structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- ESP rs375577826
- ExAC rs375577826
- gnomAD rs375577826
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- ESM-1b 0.71
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -1.04
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.692