S19R (p.Ser19Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S19R (p.Ser19Arg) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- rs1256086921
- gnomAD 18-58045080-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- ESM-1b 0.86
- AlphaMissense 0.89
- CADD 16.10
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.595
- Literature evidence available