S46P (p.Ser46Pro) variant of GAA (Lysosomal alpha-glucosidase)
S46P (p.Ser46Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S46P (p.Ser46Pro) variant details
- p.Ser46Pro
- rs777215354
- cosmic curated COSV10883
- UniProt VAR 068564
- ExAC rs777215354
- Likely benign
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.48
- MetaLR 0.37
- MetaSVM -0.71
- CADD 7.00
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Likely benign (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. (PMID 19588081)
- Cited in: Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online. (PMID 10189220)