L5I (p.Leu5Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L5I (p.Leu5Ile) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L5I (p.Leu5Ile) variant details
- p.Leu5Ile
- gnomAD 18-58044673-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.08
- CADD 18.40
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.259
- Literature evidence available