G133E (p.Gly133Glu) variant of LAMP2 (P13473)
G133E (p.Gly133Glu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature.
G133E (p.Gly133Glu) variant details
- p.Gly133Glu
- rs2147283120
- ClinGen CA414402396
- ClinVar RCV001977481
- Ensembl rs2147283120
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.93
- PolyPhen-2 0.20
- SIFT 0.12
- MutPred 0.76
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)
- Cited in: Danon Disease. (PMID 32134616)