E37V (p.Glu37Val) variant of ASIC1 (Acid-sensing ion channel 1)
E37V (p.Glu37Val) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E37V (p.Glu37Val) variant details
- p.Glu37Val
- gnomAD 12-50073697-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 9.59
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available