E139V (p.Glu139Val) variant of LAMP2 (P13473)
E139V (p.Glu139Val) 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 0.31 / 1. The record also includes published literature.
E139V (p.Glu139Val) variant details
- p.Glu139Val
- rs1602536486
- ClinGen CA414402339
- ClinVar RCV000813835
- Ensembl rs1602536486
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.14
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.06
- SIFT 0.28
- EVE 0.13
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)