G70V (p.Gly70Val) variant of LAMP2 (P13473)
G70V (p.Gly70Val) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- rs1340367353
- ClinGen CA414403481
- ClinVar RCV001730307
- ClinVar RCV002421249
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0524
- REVEL 0.01
- CADD 3.74
- ClinVar: Uncertain significance (Cardiovascular phenotype; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-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)