G23R (p.Gly23Arg) variant of GRN (Progranulin)
G23R (p.Gly23Arg) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- gnomAD 17-44349231-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.62
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available