L53L (p.Leu53Leu) variant of GRN (Progranulin)
L53L (p.Leu53Leu) in GRN (Progranulin) is a synonymous 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.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- gnomAD 17-44349446-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available