V16* (p.Val16Ter) variant of ASIC1 (Acid-sensing ion channel 1)
V16* (p.Val16Ter) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V16* (p.Val16Ter) variant details
- p.Val16Ter
- rs762883637
- gnomAD 12-50058810-CG-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available