E137K (p.Glu137Lys) variant of PKP2 (Plakophilin-2)
E137K (p.Glu137Lys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- rs781739949
- ClinGen CA037294
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Uncertain significance
- not specified; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- MetaLR 0.60
- MetaSVM 0.10
- CADD 22.80
- PolyPhen-2 0.49
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; not provided; Cardiomyopathy)
- EBI: Pathogenic (in ARVD9)
- UniProt: Pathogenic (in ARVD9)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID 19863551)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)