A105T (p.Ala105Thr) variant of LAMP2 (P13473)
A105T (p.Ala105Thr) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and published literature.
A105T (p.Ala105Thr) variant details
- p.Ala105Thr
- rs2147286818
- ClinGen CA414403050
- ClinVar RCV003150612
- ClinVar RCV003621684
- Uncertain significance
- Cardiomyopathy; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0343
- REVEL 0.01
- CADD 0.18
- PolyPhen-2 0.04
- SIFT 0.62
- ClinVar: Uncertain significance (Cardiomyopathy; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)