D26N (p.Asp26Asn) variant of PKP2 (Plakophilin-2)
D26N (p.Asp26Asn) 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 Hypertrophic cardiomyopathy; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- rs143004808
- ClinGen CA010689
- cosmic curated COSV10608
- ClinVar RCV000038225
- Benign/Likely benign
- Hypertrophic cardiomyopathy; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.43
- MetaLR 0.45
- MetaSVM 0.03
- CADD 26.60
- PolyPhen-2 0.75
- SIFT 0.10
- ClinVar: Benign/Likely benign (Hypertrophic cardiomyopathy; Cardiomyopathy; Cardiovascular phen)
- EBI: Benign (in dbSNP:rs143004808)
- UniProt: Benign (in dbSNP:rs143004808)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or… (PMID 19955750)
- Cited in: Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular… (PMID 20031617)