S25C (p.Ser25Cys) variant of ASIC1 (Acid-sensing ion channel 1)
S25C (p.Ser25Cys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S25C (p.Ser25Cys) variant details
- p.Ser25Cys
- TOPMed rs1434311522
- gnomAD rs1434311522
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- ESM-1b 0.46
- AlphaMissense 0.11
- MetaLR 0.24
- MetaSVM -0.76
- CADD 21.10
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available