S17F (p.Ser17Phe) variant of ASIC1 (Acid-sensing ion channel 1)
S17F (p.Ser17Phe) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- gnomAD 12-50073607-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 16.80
- SIFT 0.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available