S19V (p.Ser19Val) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S19V (p.Ser19Val) 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 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S19V (p.Ser19Val) variant details
- p.Ser19Val
- rs1200525904
- gnomAD 18-58045074-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.08
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.595
- Literature evidence available