E8G (p.Glu8Gly) variant of ASIC1 (Acid-sensing ion channel 1)
E8G (p.Glu8Gly) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD 12-50058789-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.62
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available