V20G (p.Val20Gly) variant of LAMP2 (P13473)
V20G (p.Val20Gly) 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 0.35 / 1. The record also includes published literature.
V20G (p.Val20Gly) variant details
- p.Val20Gly
- rs1921661568
- ClinGen CA414397818
- ClinVar RCV001211314
- Ensembl rs1921661568
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.92
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.40
- 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)