Y27F (p.Tyr27Phe) variant of LAMP2 (P13473)
Y27F (p.Tyr27Phe) 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.
Y27F (p.Tyr27Phe) variant details
- p.Tyr27Phe
- rs1449153826
- ClinGen CA414403790
- ClinVar RCV003846456
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.99
- PolyPhen-2 0.05
- SIFT 0.10
- EVE 0.48
- 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)