S17R (p.Ser17Arg) variant of ASIC1 (Acid-sensing ion channel 1)
S17R (p.Ser17Arg) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 12-50058817-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.21
- ESM-1b 0.94
- AlphaMissense 0.85
- MetaLR 0.23
- MetaSVM -0.60
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available