S70I (p.Ser70Ile) variant of PKP2 (Plakophilin-2)
S70I (p.Ser70Ile) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S70I (p.Ser70Ile) variant details
- p.Ser70Ile
- rs75909145
- ClinGen CA011711
- ClinVar RCV000038197
- ClinVar RCV000206028
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.74
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.12
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign (in dbSNP:rs75909145)
- UniProt: Benign (in dbSNP:rs75909145)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID 19863551)
- Cited in: Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or… (PMID 19955750)