p.Val16dup variant of ASIC1 (Acid-sensing ion channel 1)
p.Val16dup in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val16dup variant details
- gnomAD 12-50058810-C-CGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available