S13D (p.Ser13Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S13D (p.Ser13Asp) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S13D (p.Ser13Asp) variant details
- p.Ser13Asp
- gnomAD 18-58044695-T-TGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 27.40
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.608
- Literature evidence available