G29C (p.Gly29Cys) variant of ASIC1 (Acid-sensing ion channel 1)
G29C (p.Gly29Cys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- rs1053497326
- gnomAD 12-50073660-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 14.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available