E6Q (p.Glu6Gln) variant of ASIC1 (Acid-sensing ion channel 1)
E6Q (p.Glu6Gln) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- rs1191015788
- ClinGen CA384775512
- ClinVar RCV004420761
- TOPMed rs1191015788
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.19
- MetaSVM -0.85
- CADD 22.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available