V72M (p.Val72Met) variant of LAMP2 (P13473)
V72M (p.Val72Met) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Danon disease; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- rs778193991
- ClinGen CA10505330
- ClinVar RCV000608584
- ClinVar RCV001293166
- Uncertain significance
- not specified; Danon disease; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- CADD 20.50
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Danon disease; Primary dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- 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)