S85C (p.Ser85Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S85C (p.Ser85Cys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S85C (p.Ser85Cys) variant details
- p.Ser85Cys
- NCI-TCGA TCGA novel
- TOPMed rs1478849700
- gnomAD rs1478849700
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.38
- CADD 23.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available