I88T (p.Ile88Thr) variant of LAMP2 (P13473)
I88T (p.Ile88Thr) 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 0.44 / 1. The record also includes published literature and structural context.
I88T (p.Ile88Thr) variant details
- p.Ile88Thr
- rs1569371283
- ClinGen CA414403284
- ClinVar RCV000699076
- Ensembl rs1569371283
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.67
- MetaLR 0.13
- MetaSVM -0.88
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)