R4K (p.Arg4Lys) variant of GAA (Lysosomal alpha-glucosidase)
R4K (p.Arg4Lys) 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 not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- rs372147077
- ClinGen CA198768
- ClinVar RCV000168657
- ClinVar RCV000336661
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.25
- MetaLR 0.36
- MetaSVM -0.73
- CADD 0.34
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0011)
- 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)