S115L (p.Ser115Leu) variant of LAMP2 (P13473)
S115L (p.Ser115Leu) 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 0.31 / 1. The record also includes published literature and structural context.
S115L (p.Ser115Leu) variant details
- p.Ser115Leu
- rs950725039
- ClinGen CA335014012
- cosmic curated COSV52356
- ClinVar RCV003031995
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -0.96
- PolyPhen-2 0.01
- SIFT 0.36
- EVE 0.16
- ClinVar: Uncertain significance (Danon disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)