P44H (p.Pro44His) variant of GRN (Progranulin)
P44H (p.Pro44His) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P44H (p.Pro44His) variant details
- p.Pro44His
- gnomAD 17-44349295-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.21
- CADD 18.30
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available