G12W (p.Gly12Trp) variant of ASIC1 (Acid-sensing ion channel 1)
G12W (p.Gly12Trp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- gnomAD 12-50073639-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 14.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available