S601L (p.Ser601Leu) variant of GAA (Lysosomal alpha-glucosidase)
S601L (p.Ser601Leu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S601L (p.Ser601Leu) variant details
- p.Ser601Leu
- rs374470794
- ClinGen CA274982
- ClinVar RCV000174449
- ClinVar RCV001242470
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the… (PMID 22644586)
- Cited in: A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA… (PMID 22676651)