T125A (p.Thr125Ala) variant of LAMP2 (P13473)
T125A (p.Thr125Ala) 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 0.15 / 1. The record also includes population frequency data and published literature.
T125A (p.Thr125Ala) variant details
- p.Thr125Ala
- rs748494547
- ClinGen CA10505316
- ClinVar RCV001360040
- ExAC rs748494547
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.10
- CADD 12.10
- PolyPhen-2 0.34
- SIFT 0.29
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.7e-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)