G12R (p.Gly12Arg) variant of ASIC1 (Acid-sensing ion channel 1)
G12R (p.Gly12Arg) 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.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD 12-50073624-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 16.60
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available