S85F (p.Ser85Phe) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S85F (p.Ser85Phe) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S85F (p.Ser85Phe) variant details
- p.Ser85Phe
- TOPMed rs1478849700
- gnomAD rs1478849700
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.29
- MetaSVM -0.49
- CADD 24.70
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available