P44L (p.Pro44Leu) variant of GRN (Progranulin)
P44L (p.Pro44Leu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- gnomAD 17-44349295-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.65
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available