P276S (p.Pro276Ser) variant of PKP2 (Plakophilin-2)
P276S (p.Pro276Ser) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P276S (p.Pro276Ser) variant details
- p.Pro276Ser
- rs201944276
- ClinGen CA012521
- ClinVar RCV000154802
- ClinVar RCV000172583
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.91
- CADD 0.52
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign (in dbSNP:rs201944276)
- UniProt: Likely benign (in dbSNP:rs201944276)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular… (PMID 20031617)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)