P4T (p.Pro4Thr) variant of PKP2 (Plakophilin-2)
P4T (p.Pro4Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- rs1425675043
- ClinGen CA384371818
- ClinVar RCV003507743
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.92
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.29
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)