E2D (p.Glu2Asp) variant of ASIC1 (Acid-sensing ion channel 1)
E2D (p.Glu2Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 12-50058772-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -0.93
- CADD 15.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available