L27M (p.Leu27Met) variant of ASIC1 (Acid-sensing ion channel 1)
L27M (p.Leu27Met) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- rs1302776584
- gnomAD 12-50073645-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 8.07
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available