S67L (p.Ser67Leu) variant of LAMP2 (P13473)
S67L (p.Ser67Leu) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S67L (p.Ser67Leu) variant details
- p.Ser67Leu
- rs2520908485
- ClinGen CA414403503
- ClinVar RCV002610903
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.09
- CADD 16.00
- PolyPhen-2 0.13
- SIFT 0.13
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- 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)