T248I (p.Thr248Ile) variant of PKP2 (Plakophilin-2)
T248I (p.Thr248Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
T248I (p.Thr248Ile) variant details
- p.Thr248Ile
- rs1956951485
- ClinGen CA384362822
- ClinVar RCV003382249
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.12
- MetaLR 0.37
- MetaSVM -0.75
- PolyPhen-2 0.26
- SIFT 0.15
- EVE 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available