A187T (p.Ala187Thr) variant of PKP2 (Plakophilin-2)
A187T (p.Ala187Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; Cardiomyopathy. 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.
A187T (p.Ala187Thr) variant details
- p.Ala187Thr
- rs200095747
- ClinGen CA037962
- NCI-TCGA Cosmic COSV5074
- cosmic curated COSV50742
- Conflicting interpretations
- not specified; Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.92
- CADD 1.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)