G17M (p.Gly17Met) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G17M (p.Gly17Met) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17M (p.Gly17Met) variant details
- p.Gly17Met
- rs2081512788
- gnomAD 18-58045072-CCCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.667
- Literature evidence available