M749V (p.Met749Val) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
M749V (p.Met749Val) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Periventricular nodular heterotopia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
M749V (p.Met749Val) variant details
- p.Met749Val
- rs2046707868
- ClinGen CA402551337
- ClinVar RCV001031004
- Ensembl rs2046707868
- Likely pathogenic
- Periventricular nodular heterotopia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.22
- MetaSVM -0.71
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Likely pathogenic (Periventricular nodular heterotopia 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available