V15L (p.Val15Leu) variant of GRN (Progranulin)
V15L (p.Val15Leu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- TOPMed rs1209593564
- gnomAD rs1209593564
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.30
- CADD 25.00
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available