S40W (p.Ser40Trp) variant of ASIC1 (Acid-sensing ion channel 1)
S40W (p.Ser40Trp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S40W (p.Ser40Trp) variant details
- p.Ser40Trp
- gnomAD 12-50073700-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 14.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available