A2V (p.Ala2Val) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A2V (p.Ala2Val) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 18-58044665-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.05
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.09
- MetaSVM -1.04
- CADD 23.80
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.0006
- Literature evidence available