G85S (p.Gly85Ser) variant of LAMP2 (P13473)
G85S (p.Gly85Ser) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
G85S (p.Gly85Ser) variant details
- p.Gly85Ser
- rs371149731
- ClinGen CA16621191
- ClinVar RCV000480236
- ClinVar RCV002431391
- Uncertain significance
- Cardiovascular phenotype; not specified; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- 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)