T120P (p.Thr120Pro) variant of LAMP2 (P13473)
T120P (p.Thr120Pro) 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 0.40 / 1. The record also includes published literature.
T120P (p.Thr120Pro) variant details
- p.Thr120Pro
- rs1921042918
- ClinGen CA414402860
- ClinVar RCV002957736
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.85
- PolyPhen-2 0.88
- SIFT 0.10
- EVE 0.61
- 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)