P306T (p.Pro306Thr) variant of PKP2 (Plakophilin-2)
P306T (p.Pro306Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P306T (p.Pro306Thr) variant details
- p.Pro306Thr
- rs2541338905
- ClinGen CA2825002080
- ClinVar RCV004519052
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.27
- MetaLR 0.31
- MetaSVM -0.94
- CADD 6.79
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available