Q24H (p.Gln24His) variant of GRN (Progranulin)
Q24H (p.Gln24His) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q24H (p.Gln24His) variant details
- p.Gln24His
- gnomAD rs1399446930
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available