L46L (p.Leu46Leu) variant of GRN (Progranulin)
L46L (p.Leu46Leu) in GRN (Progranulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- rs1351623830
- gnomAD 17-44349302-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 20.80
- Population evidence available
- Structural context available
- Literature evidence available