E9del (p.Glu9del) variant of ASIC1 (Acid-sensing ion channel 1)
E9del (p.Glu9del) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E9del (p.Glu9del) variant details
- rs1565723020
- gnomAD 12-50058781-CGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available