L112P (p.Leu112Pro) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L112P (p.Leu112Pro) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L112P (p.Leu112Pro) variant details
- p.Leu112Pro
- Ensembl rs1568669229
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.42
- CADD 31.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available