T17I (p.Thr17Ile) variant of ADD1 (Alpha-adducin)
T17I (p.Thr17Ile) in ADD1 (Alpha-adducin) 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, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs751001448
- gnomAD 4-2875965-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.07
- MetaSVM -1.09
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available