H572P (p.His572Pro) variant of GAA (Lysosomal alpha-glucosidase)
H572P (p.His572Pro) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
H572P (p.His572Pro) variant details
- p.His572Pro
- rs1424756308
- ClinGen CA401369052
- ClinVar RCV001071052
- gnomAD rs1424756308
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.98
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance (in IOPD)
- UniProt: Uncertain significance (in IOPD)
- Population evidence available
- Structural context available
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