R19R (p.Arg19Arg) variant of GRN (Progranulin)
R19R (p.Arg19Arg) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R19R (p.Arg19Arg) variant details
- p.Arg19Arg
- rs1426790644
- gnomAD 17-44349221-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 8.31
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Literature evidence available