A2E (p.Ala2Glu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A2E (p.Ala2Glu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD rs62094319
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.11
- MetaSVM -1.00
- CADD 23.50
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.0006