R725W (p.Arg725Trp) variant of GAA (Lysosomal alpha-glucosidase)
R725W (p.Arg725Trp) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R725W (p.Arg725Trp) variant details
- p.Arg725Trp
- rs121907938
- ClinGen CA116598
- cosmic curated COSV56408
- ClinVar RCV000169045
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.91
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00036)
- Structural context available
- Cited in: Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen… (PMID 8401535)
- Cited in: Pompe Disease. (PMID 20301438)