A33D (p.Ala33Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A33D (p.Ala33Asp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- ExAC rs776869289
- gnomAD rs776869289
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM -0.24
- CADD 25.70
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.385