A9T (p.Ala9Thr) variant of GRN (Progranulin)
A9T (p.Ala9Thr) in GRN (Progranulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- TOPMed rs1180124944
- gnomAD rs1180124944
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- CADD 17.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in FTD2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available