S40* (p.Ser40Ter) variant of ASIC1 (Acid-sensing ion channel 1)
S40* (p.Ser40Ter) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S40* (p.Ser40Ter) variant details
- p.Ser40Ter
- rs750109464
- gnomAD 12-50073700-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available