F91I (p.Phe91Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
F91I (p.Phe91Ile) 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 0.56 / 1. The record also includes population frequency data and structural context.
F91I (p.Phe91Ile) variant details
- p.Phe91Ile
- rs1600253758
- ClinGen CA402715919
- ClinVar RCV000790908
- Ensembl rs1600253758
- Uncertain significance
- Periventricular nodular heterotopia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.33
- MetaSVM -0.36
- CADD 24.60
- ClinVar: Uncertain significance (Periventricular nodular heterotopia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available