A20G (p.Ala20Gly) variant of ASIC1 (Acid-sensing ion channel 1)
A20G (p.Ala20Gly) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- rs904908428
- gnomAD 12-50073634-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.07
- ESM-1b 0.83
- AlphaMissense 0.20
- CADD 14.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available