E7K (p.Glu7Lys) variant of ASIC1 (Acid-sensing ion channel 1)
E7K (p.Glu7Lys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD 12-50058785-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.22
- MetaSVM -1.05
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available