M1I (p.Met1Ile) variant of ASIC1 (Acid-sensing ion channel 1)
M1I (p.Met1Ile) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1416728533
- gnomAD 12-50073611-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 15.70
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available