Y27C (p.Tyr27Cys) variant of LAMP2 (P13473)
Y27C (p.Tyr27Cys) 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 0.22 / 1. The record also includes population frequency data and published literature.
Y27C (p.Tyr27Cys) variant details
- p.Tyr27Cys
- rs1449153826
- ClinGen CA414403789
- NCI-TCGA Cosmic COSV5235
- cosmic curated COSV52353
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.99
- CADD 10.10
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- 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)