L5P (p.Leu5Pro) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L5P (p.Leu5Pro) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD 18-58044674-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.259
- Literature evidence available