E9A (p.Glu9Ala) variant of ASIC1 (Acid-sensing ion channel 1)
E9A (p.Glu9Ala) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E9A (p.Glu9Ala) variant details
- p.Glu9Ala
- gnomAD 12-50058792-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.71
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available