L32P (p.Leu32Pro) variant of GRN (Progranulin)
L32P (p.Leu32Pro) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- gnomAD 17-44349259-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available