F96L (p.Phe96Leu) variant of LAMP2 (P13473)
F96L (p.Phe96Leu) 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 0.28 / 1. The record also includes published literature and structural context.
F96L (p.Phe96Leu) variant details
- p.Phe96Leu
- rs1421127800
- ClinGen CA414403211
- ClinVar RCV001241789
- TOPMed rs1421127800
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.70
- MetaLR 0.05
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.71
- EVE 0.16
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)