H114R (p.His114Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
H114R (p.His114Arg) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H114R (p.His114Arg) variant details
- p.His114Arg
- ExAC rs756725290
- gnomAD rs756725290
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.35
- MetaSVM -0.52
- CADD 22.80
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available