E6A (p.Glu6Ala) variant of ASIC1 (Acid-sensing ion channel 1)
E6A (p.Glu6Ala) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes structural context.
E6A (p.Glu6Ala) variant details
- p.Glu6Ala
- TOPMed rs1950471188
- gnomAD rs1950471188
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -1.00
- SIFT 0.17
- Structural context available