H69Y (p.His69Tyr) variant of LAMP2 (P13473)
H69Y (p.His69Tyr) 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 0.04 / 1. The record also includes population frequency data and published literature.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- rs776875696
- ClinGen CA10505333
- ClinVar RCV001218537
- ClinVar RCV002418750
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0443
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.96
- ClinVar: Uncertain significance (Cardiovascular phenotype; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)