H28Q (p.His28Gln) variant of ASIC1 (Acid-sensing ion channel 1)
H28Q (p.His28Gln) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- rs935354947
- gnomAD 12-50073668-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 2.83
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available