G17E (p.Gly17Glu) variant of GRN (Progranulin)
G17E (p.Gly17Glu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD rs2048348029
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.49
- AlphaMissense 0.23
- MetaLR 0.48
- MetaSVM -0.23
- CADD 24.50
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available