I18L (p.Ile18Leu) variant of ASIC1 (Acid-sensing ion channel 1)
I18L (p.Ile18Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I18L (p.Ile18Leu) variant details
- p.Ile18Leu
- gnomAD rs1428383855
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.05
- CADD 19.90
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available