H10L (p.His10Leu) variant of GAA (Lysosomal alpha-glucosidase)
H10L (p.His10Leu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H10L (p.His10Leu) variant details
- p.His10Leu
- rs2143823914
- ClinGen CA401359950
- ClinVar RCV003836446
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.37
- MetaLR 0.39
- MetaSVM -0.66
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-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)