T18A (p.Thr18Ala) variant of GRN (Progranulin)
T18A (p.Thr18Ala) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Parkinsonian disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- rs1003823098
- ClinGen CA290922172
- ClinVar RCV002251715
- Ensembl rs1003823098
- Pathogenic
- Parkinsonian disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.19
- CADD 18.80
- PolyPhen-2 0.16
- SIFT 0.18
- ClinVar: Pathogenic (Parkinsonian disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available