Q24R (p.Gln24Arg) variant of GRN (Progranulin)
Q24R (p.Gln24Arg) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD 17-44349235-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.37
- CADD 17.80
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available