G12E (p.Gly12Glu) variant of ASIC1 (Acid-sensing ion channel 1)
G12E (p.Gly12Glu) 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.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- gnomAD 12-50073640-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.80
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available