C647F (p.Cys647Phe) variant of GAA (Lysosomal alpha-glucosidase)
C647F (p.Cys647Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C647F (p.Cys647Phe) variant details
- p.Cys647Phe
- rs1265892085
- ClinGen CA401369920
- ClinVar RCV001588706
- ClinVar RCV001866229
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance (in IOPD and LOPD)
- UniProt: Uncertain significance (in IOPD and LOPD)
- Population evidence available
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
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