S17P (p.Ser17Pro) variant of ASIC1 (Acid-sensing ion channel 1)
S17P (p.Ser17Pro) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- gnomAD 12-50073612-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 17.90
- SIFT 0.03
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available