R43S (p.Arg43Ser) variant of ASIC1 (Acid-sensing ion channel 1)
R43S (p.Arg43Ser) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- gnomAD 12-50073740-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 7.15
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available