T614K (p.Thr614Lys) variant of GAA (Lysosomal alpha-glucosidase)
T614K (p.Thr614Lys) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T614K (p.Thr614Lys) variant details
- p.Thr614Lys
- rs369531647
- ClinGen CA234050
- ClinVar RCV000591376
- ClinVar RCV000723464
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.83
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. (PMID 18425781)
- Cited in: Pompe Disease. (PMID 20301438)