K87T (p.Lys87Thr) variant of LAMP2 (P13473)
K87T (p.Lys87Thr) 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; not provided; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and published literature.
K87T (p.Lys87Thr) variant details
- p.Lys87Thr
- rs1556112678
- ClinGen CA414403301
- ClinVar RCV000522679
- ClinVar RCV001219126
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0481
- REVEL 0.02
- CADD 2.64
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.7e-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)