E6G (p.Glu6Gly) variant of ASIC1 (Acid-sensing ion channel 1)
E6G (p.Glu6Gly) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- TOPMed rs1950471188
- gnomAD rs1950471188
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.94
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available