L27F (p.Leu27Phe) variant of ASIC1 (Acid-sensing ion channel 1)
L27F (p.Leu27Phe) 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.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- gnomAD 12-50073647-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.05
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 13.70
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available