K67Q (p.Lys67Gln) variant of PKP2 (Plakophilin-2)
K67Q (p.Lys67Gln) 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 dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
K67Q (p.Lys67Gln) variant details
- p.Lys67Gln
- rs1555149950
- ClinGen CA384370597
- ClinVar RCV003508130
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.70
- MetaLR 0.29
- MetaSVM -0.68
- PolyPhen-2 0.22
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)