A65T (p.Ala65Thr) variant of PKP2 (Plakophilin-2)
A65T (p.Ala65Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- rs143323961
- ClinGen CA384370680
- ClinVar RCV004015951
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.31
- MetaLR 0.56
- MetaSVM -0.31
- CADD 26.00
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)