Q34del (p.Gln34del) variant of ASIC1 (Acid-sensing ion channel 1)
Q34del (p.Gln34del) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q34del (p.Gln34del) variant details
- rs1243010501
- gnomAD 12-50073674-TCAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 7.88
- Population evidence available
- Structural context available
- Literature evidence available