L45L (p.Leu45Leu) variant of ASIC1 (Acid-sensing ion channel 1)
L45L (p.Leu45Leu) in ASIC1 (Acid-sensing ion channel 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- gnomAD 12-50058899-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 11.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available