G48D (p.Gly48Asp) variant of PKP2 (Plakophilin-2)
G48D (p.Gly48Asp) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- rs2541384477
- ClinGen CA384371140
- ClinVar RCV004015279
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.94
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)