E7G (p.Glu7Gly) variant of ASIC1 (Acid-sensing ion channel 1)
E7G (p.Glu7Gly) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- gnomAD 12-50058786-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.95
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available