S35C (p.Ser35Cys) variant of ASIC1 (Acid-sensing ion channel 1)
S35C (p.Ser35Cys) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- gnomAD 12-50058867-TCTCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available