V310L (p.Val310Leu) variant of LAMP2 (P13473)
V310L (p.Val310Leu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V310L (p.Val310Leu) variant details
- p.Val310Leu
- rs104894858
- ClinGen CA414400263
- ClinVar RCV002037657
- ClinVar RCV005924360
- Pathogenic
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.13
- MetaLR 0.22
- MetaSVM -0.60
- PolyPhen-2 0.03
- SIFT 0.04
- MutPred 0.74
- ClinVar: Pathogenic (Danon disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)