L29S (p.Leu29Ser) variant of LAMP2 (P13473)
L29S (p.Leu29Ser) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L29S (p.Leu29Ser) variant details
- p.Leu29Ser
- rs2520913509
- ClinGen CA414403776
- ClinVar RCV002942954
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)