Q19R (p.Gln19Arg) variant of ASIC1 (Acid-sensing ion channel 1)
Q19R (p.Gln19Arg) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- gnomAD 12-50073676-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.02
- ESM-1b 0.56
- AlphaMissense 0.11
- CADD 1.85
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available