R11W (p.Arg11Trp) variant of GAA (Lysosomal alpha-glucosidase)
R11W (p.Arg11Trp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs772394815
- ClinGen CA8814759
- ClinVar RCV000537422
- ExAC rs772394815
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.23
- MetaLR 0.38
- MetaSVM -0.61
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
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