T69I (p.Thr69Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
T69I (p.Thr69Ile) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
T69I (p.Thr69Ile) variant details
- p.Thr69Ile
- ExAC rs750511549
- gnomAD rs750511549
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.67
- MetaSVM 0.59
- CADD 27.80
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available