T300M (p.Thr300Met) variant of PKP2 (Plakophilin-2)
T300M (p.Thr300Met) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T300M (p.Thr300Met) variant details
- p.Thr300Met
- rs553098424
- ClinGen CA384362066
- NCI-TCGA Cosmic COSV5074
- ClinVar RCV001950468
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.26
- MetaLR 0.50
- MetaSVM -0.65
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- 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: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)