E7V (p.Glu7Val) variant of ASIC1 (Acid-sensing ion channel 1)
E7V (p.Glu7Val) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- gnomAD 12-50058786-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.21
- MetaSVM -0.86
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available