K42* (p.Lys42Ter) variant of ASIC1 (Acid-sensing ion channel 1)
K42* (p.Lys42Ter) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K42* (p.Lys42Ter) variant details
- p.Lys42Ter
- gnomAD 12-50073741-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 6.50
- Population evidence available
- Structural context available
- Literature evidence available