S13C (p.Ser13Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S13C (p.Ser13Cys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- rs1392756435
- ClinGen CA402715056
- ClinVar RCV001400905
- gnomAD rs1392756435
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.07
- CADD 21.10
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.608