T71A (p.Thr71Ala) variant of LAMP2 (P13473)
T71A (p.Thr71Ala) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T71A (p.Thr71Ala) variant details
- p.Thr71Ala
- rs747390282
- ClinGen CA10505331
- ClinVar RCV003623572
- ExAC rs747390282
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0386
- REVEL 0.01
- CADD 2.23
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- 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)