Q19H (p.Gln19His) variant of ASIC1 (Acid-sensing ion channel 1)
Q19H (p.Gln19His) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- rs540023446
- gnomAD 12-50073677-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 8.54
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available