T71I (p.Thr71Ile) variant of LAMP2 (P13473)
T71I (p.Thr71Ile) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T71I (p.Thr71Ile) variant details
- p.Thr71Ile
- rs2520908353
- ClinGen CA414403475
- ClinVar RCV002740151
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0602
- REVEL 0.02
- CADD 8.67
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)