E37Q (p.Glu37Gln) variant of ASIC1 (Acid-sensing ion channel 1)
E37Q (p.Glu37Gln) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- TOPMed rs1025157825
- gnomAD rs1025157825
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.26
- MetaSVM -0.51
- CADD 22.60
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available