S20C (p.Ser20Cys) variant of GAA (Lysosomal alpha-glucosidase)
S20C (p.Ser20Cys) 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; not provided. 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.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- rs752449306
- ClinGen CA16607527
- ClinVar RCV000427881
- ClinVar RCV001851081
- Uncertain significance
- Glycogen storage disease, type II; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.26
- MetaLR 0.40
- MetaSVM -0.68
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Glycogen storage disease, type II; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)