A2T (p.Ala2Thr) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A2T (p.Ala2Thr) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 18-58044664-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.09
- MetaSVM -1.04
- CADD 23.90
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.0006
- Literature evidence available