C3S (p.Cys3Ser) variant of LAMP2 (P13473)
C3S (p.Cys3Ser) 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; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
C3S (p.Cys3Ser) variant details
- p.Cys3Ser
- rs730880489
- ClinGen CA335014954
- ClinVar RCV002376348
- ClinVar RCV003100077
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- AlphaMissense 0.11
- MetaLR 0.20
- MetaSVM -0.91
- CADD 23.10
- PolyPhen-2 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00016)
- 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)