E139K (p.Glu139Lys) variant of LAMP2 (P13473)
E139K (p.Glu139Lys) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 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.
E139K (p.Glu139Lys) variant details
- p.Glu139Lys
- rs373007615
- ClinGen CA10505304
- ClinVar RCV002261663
- ClinVar RCV003621616
- Conflicting interpretations
- not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0403
- REVEL 0.01
- CADD 0.45
- PolyPhen-2 0.01
- SIFT 0.84
- ClinVar: Conflicting classifications of pathogenicity (not provided; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.7e-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)