L27W (p.Leu27Trp) variant of ASIC1 (Acid-sensing ion channel 1)
L27W (p.Leu27Trp) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating 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.
L27W (p.Leu27Trp) variant details
- p.Leu27Trp
- rs1565729570
- gnomAD 12-50073638-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available