Q19* (p.Gln19Ter) variant of ASIC1 (Acid-sensing ion channel 1)
Q19* (p.Gln19Ter) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs1475227482
- gnomAD 12-50073675-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 6.81
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Literature evidence available