E2K (p.Glu2Lys) variant of ASIC1 (Acid-sensing ion channel 1)
E2K (p.Glu2Lys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- ExAC rs748123096
- TOPMed rs748123096
- gnomAD rs748123096
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available