S249T (p.Ser249Thr) variant of PKP2 (Plakophilin-2)
S249T (p.Ser249Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
S249T (p.Ser249Thr) variant details
- p.Ser249Thr
- rs1085307949
- ClinGen CA384362810
- ClinVar RCV003532784
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.74
- MetaLR 0.74
- MetaSVM 0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)