I18F (p.Ile18Phe) variant of ASIC1 (Acid-sensing ion channel 1)
I18F (p.Ile18Phe) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- rs1409507590
- gnomAD 12-50073591-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 16.50
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available