V110M (p.Val110Met) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V110M (p.Val110Met) 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 specified; Periventricular nodular heterotopia 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V110M (p.Val110Met) variant details
- p.Val110Met
- rs777311647
- ClinGen CA8975307
- ClinVar RCV001904515
- ClinVar RCV002482497
- Uncertain significance
- not specified; Periventricular nodular heterotopia 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.48
- MetaSVM -0.16
- CADD 25.90
- ClinVar: Uncertain significance (not specified; Periventricular nodular heterotopia 7; not provid)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available