E9K (p.Glu9Lys) variant of ASIC1 (Acid-sensing ion channel 1)
E9K (p.Glu9Lys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs1360861584
- gnomAD 12-50073630-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 17.90
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available