Y292H (p.Tyr292His) variant of GAA (Lysosomal alpha-glucosidase)
Y292H (p.Tyr292His) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y292H (p.Tyr292His) variant details
- p.Tyr292His
- rs2510359237
- ClinGen CA401363862
- ClinVar RCV003143451
- ClinVar RCV003609257
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.81
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Likely pathogenic (in LOPD)
- UniProt: Likely pathogenic (in LOPD)
- Most common in the African/African-American population (allele frequency 3e-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)