V137L (p.Val137Leu) variant of LAMP2 (P13473)
V137L (p.Val137Leu) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V137L (p.Val137Leu) variant details
- p.Val137Leu
- rs2147283117
- ClinGen CA414402366
- ClinVar RCV001980591
- Ensembl rs2147283117
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- CADD 12.40
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)