G17S (p.Gly17Ser) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G17S (p.Gly17Ser) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs2084067104
- gnomAD 18-58091472-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.26
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.667
- Literature evidence available