S35L (p.Ser35Leu) variant of ASIC1 (Acid-sensing ion channel 1)
S35L (p.Ser35Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- gnomAD 12-50073694-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.06
- ESM-1b 0.27
- AlphaMissense 0.26
- CADD 7.38
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available