I18T (p.Ile18Thr) variant of ASIC1 (Acid-sensing ion channel 1)
I18T (p.Ile18Thr) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD 12-50073592-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 18.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available