R5C (p.Arg5Cys) variant of LAMP2 (P13473)
R5C (p.Arg5Cys) 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 0.34 / 1. The record also includes population frequency data and published literature.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs2147294900
- ClinGen CA414398067
- ClinVar RCV001360992
- NCI-TCGA TCGA novel
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.22
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-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)