S40L (p.Ser40Leu) variant of ASIC1 (Acid-sensing ion channel 1)
S40L (p.Ser40Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs750109464
- gnomAD 12-50073700-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 14.80
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available