V9L (p.Val9Leu) variant of LAMP2 (P13473)
V9L (p.Val9Leu) 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 0.19 / 1. The record also includes population frequency data and published literature.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs1921665698
- ClinGen CA414397990
- ClinVar RCV001337296
- ClinVar RCV003169581
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.02
- CADD 14.20
- PolyPhen-2 0.10
- SIFT 0.18
- 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 2.4e-06)
- 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)