L47F (p.Leu47Phe) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L47F (p.Leu47Phe) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- ExAC rs746306800
- gnomAD rs746306800
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.49
- ESM-1b 0.72
- AlphaMissense 0.89
- MetaLR 0.41
- MetaSVM -0.18
- CADD 26.90
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.204