E37D (p.Glu37Asp) variant of ASIC1 (Acid-sensing ion channel 1)
E37D (p.Glu37Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- gnomAD 12-50073698-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.06
- ESM-1b 0.26
- AlphaMissense 0.14
- CADD 6.47
- SIFT 0.81
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available