R43G (p.Arg43Gly) variant of ASIC1 (Acid-sensing ion channel 1)
R43G (p.Arg43Gly) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- gnomAD 12-50058893-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.58
- MetaSVM 0.34
- CADD 26.60
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Literature evidence available