A129T (p.Ala129Thr) variant of LAMP2 (P13473)
A129T (p.Ala129Thr) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- rs149276836
- ClinGen CA243249
- ClinVar RCV000724029
- ClinVar RCV001079583
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.34
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.013)
- 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)