P94L (p.Pro94Leu) variant of LAMP2 (P13473)
P94L (p.Pro94Leu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- rs1348977041
- ClinGen CA414403218
- ClinVar RCV003857317
- TOPMed rs1348977041
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.23
- EVE 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)