R437S (p.Arg437Ser) variant of GAA (Lysosomal alpha-glucosidase)
R437S (p.Arg437Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R437S (p.Arg437Ser) variant details
- p.Arg437Ser
- rs770610356
- ClinGen CA401365399
- ClinVar RCV003083785
- ClinVar RCV004790354
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.71
- CADD 22.20
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Population evidence available
- Structural context available
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