Q62K (p.Gln62Lys) variant of PKP2 (Plakophilin-2)
Q62K (p.Gln62Lys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q62K (p.Gln62Lys) variant details
- p.Gln62Lys
- rs199601548
- ClinGen CA010651
- ClinVar RCV000148732
- ClinVar RCV000183769
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.44
- MetaLR 0.28
- MetaSVM -0.53
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance (in ARVD9)
- UniProt: Uncertain significance (in ARVD9)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. (PMID 18662195)
- Cited in: Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability. (PMID 19533476)