P103R (p.Pro103Arg) variant of PKP2 (Plakophilin-2)
P103R (p.Pro103Arg) in PKP2 (Plakophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P103R (p.Pro103Arg) variant details
- p.Pro103Arg
- rs1956960817
- ClinGen CA1139768740
- ClinVar RCV003048230
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.30
- MetaLR 0.50
- MetaSVM -0.42
- CADD 22.20
- PolyPhen-2 0.69
- SIFT 0.18
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)