R43R (p.Arg43Arg) variant of GRN (Progranulin)
R43R (p.Arg43Arg) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- rs2143325907
- gnomAD 17-44349293-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 6.64
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available