T124I (p.Thr124Ile) variant of LAMP2 (P13473)
T124I (p.Thr124Ile) 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; not specified; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
T124I (p.Thr124Ile) variant details
- p.Thr124Ile
- rs397516744
- ClinGen CA134118
- ClinVar RCV000037417
- ClinVar RCV003343612
- Uncertain significance
- Cardiovascular phenotype; not specified; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.086
- REVEL 0.06
- CADD 8.53
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- 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)