p.Gln34dup variant of ASIC1 (Acid-sensing ion channel 1)
p.Gln34dup in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln34dup variant details
- gnomAD 12-50073674-T-TCA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 4.92
- Population evidence available
- Structural context available
- Literature evidence available