S17N (p.Ser17Asn) variant of ASIC1 (Acid-sensing ion channel 1)
S17N (p.Ser17Asn) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- gnomAD 12-50058816-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.15
- MetaSVM -0.88
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available