I18M (p.Ile18Met) variant of ASIC1 (Acid-sensing ion channel 1)
I18M (p.Ile18Met) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- gnomAD 12-50073599-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 15.30
- SIFT 0.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available