L45A (p.Leu45Ala) variant of ASIC1 (Acid-sensing ion channel 1)
L45A (p.Leu45Ala) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L45A (p.Leu45Ala) variant details
- p.Leu45Ala
- gnomAD 12-50058876-A-AGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 26.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available