V45L (p.Val45Leu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V45L (p.Val45Leu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V45L (p.Val45Leu) variant details
- p.Val45Leu
- ESP rs367741894
- ExAC rs367741894
- TOPMed rs367741894
- gnomAD rs367741894
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.62
- MetaSVM 0.23
- CADD 24.00
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.523