I18V (p.Ile18Val) variant of ASIC1 (Acid-sensing ion channel 1)
I18V (p.Ile18Val) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- rs1168455597
- gnomAD 12-50073597-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- ESM-1b 0.03
- AlphaMissense 0.11
- CADD 18.60
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available