P8L (p.Pro8Leu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P8L (p.Pro8Leu) 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 Periventricular nodular heterotopia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs375577826
- ClinGen CA402715026
- ClinVar RCV001733670
- ESP rs375577826
- Uncertain significance
- Periventricular nodular heterotopia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.04
- ESM-1b 0.12
- AlphaMissense 0.17
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.60
- ClinVar: Uncertain significance (Periventricular nodular heterotopia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.692