R43M (p.Arg43Met) variant of ASIC1 (Acid-sensing ion channel 1)
R43M (p.Arg43Met) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R43M (p.Arg43Met) variant details
- p.Arg43Met
- gnomAD 12-50073739-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.01
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 3.16
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available