F4L (p.Phe4Leu) variant of LAMP2 (P13473)
F4L (p.Phe4Leu) 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 0.17 / 1. The record also includes population frequency data and published literature.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs1375151119
- ClinGen CA414398094
- ClinVar RCV001317122
- ClinVar RCV005405571
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.04
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- 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)