E9G (p.Glu9Gly) variant of ASIC1 (Acid-sensing ion channel 1)
E9G (p.Glu9Gly) 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.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- gnomAD 12-50073628-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.80
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Literature evidence available