S45F (p.Ser45Phe) variant of GAA (Lysosomal alpha-glucosidase)
S45F (p.Ser45Phe) 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. 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.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- rs1179395024
- ClinGen CA401360317
- ClinVar RCV001359778
- gnomAD rs1179395024
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.24
- MetaLR 0.41
- MetaSVM -0.66
- CADD 1.52
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)