S169G (p.Ser169Gly) variant of PKP2 (Plakophilin-2)
S169G (p.Ser169Gly) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S169G (p.Ser169Gly) variant details
- p.Ser169Gly
- rs139139859
- ClinGen CA010682
- ClinVar RCV000038222
- ClinVar RCV000148728
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.52
- MetaLR 0.25
- MetaSVM -0.87
- CADD 6.38
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- 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)