T63I (p.Thr63Ile) variant of LAMP2 (P13473)
T63I (p.Thr63Ile) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
T63I (p.Thr63Ile) variant details
- p.Thr63Ile
- rs1358581771
- ClinGen CA414403526
- ClinVar RCV000794904
- ClinVar RCV002406740
- Conflicting interpretations
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0626
- REVEL 0.01
- CADD 7.32
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0002)
- 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)