G17E (p.Gly17Glu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G17E (p.Gly17Glu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- rs2081513391
- gnomAD 18-58045076-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 17.00
- 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