P6Q (p.Pro6Gln) variant of GAA (Lysosomal alpha-glucosidase)
P6Q (p.Pro6Gln) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- rs771409180
- ClinGen CA401359886
- ClinVar RCV000805680
- ExAC rs771409180
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.35
- MetaLR 0.46
- MetaSVM -0.48
- CADD 15.60
- PolyPhen-2 0.50
- SIFT 0.03
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
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