E8D (p.Glu8Asp) variant of ASIC1 (Acid-sensing ion channel 1)
E8D (p.Glu8Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- ExAC rs772074112
- gnomAD rs772074112
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.98
- CADD 18.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available