G93R (p.Gly93Arg) variant of LAMP2 (P13473)
G93R (p.Gly93Arg) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G93R (p.Gly93Arg) variant details
- p.Gly93Arg
- rs727504953
- ExAC rs727504953
- TOPMed rs727504953
- gnomAD rs727504953
- Conflicting interpretations
- not specified; Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.12
- CADD 12.10
- PolyPhen-2 0.14
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)