E2* (p.Glu2Ter) variant of ASIC1 (Acid-sensing ion channel 1)
E2* (p.Glu2Ter) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 12-50058770-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available