P27L (p.Pro27Leu) variant of GRN (Progranulin)
P27L (p.Pro27Leu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- TOPMed rs2048348537
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available