G13R (p.Gly13Arg) variant of GRN (Progranulin)
G13R (p.Gly13Arg) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- ExAC rs767088439
- gnomAD rs767088439
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.47
- CADD 21.50
- PolyPhen-2 0.38
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available