P8R (p.Pro8Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P8R (p.Pro8Arg) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD 18-58044683-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.05
- ESM-1b 0.35
- AlphaMissense 0.19
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.30
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.692
- Literature evidence available