P6S (p.Pro6Ser) variant of GAA (Lysosomal alpha-glucosidase)
P6S (p.Pro6Ser) 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 Cardiovascular phenotype; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs1424116613
- ClinGen CA401359883
- ClinVar RCV001887422
- ClinVar RCV006352565
- Uncertain significance
- Cardiovascular phenotype; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.17
- MetaLR 0.44
- MetaSVM -0.54
- CADD 6.88
- PolyPhen-2 0.14
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)