E85Q (p.Glu85Gln) variant of PKP2 (Plakophilin-2)
E85Q (p.Glu85Gln) 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 0.75 / 1. The record also includes structural context.
E85Q (p.Glu85Gln) variant details
- p.Glu85Gln
- rs2137953226
- ClinGen CA384366633
- ClinVar RCV003171725
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.75
- MetaLR 0.76
- MetaSVM 0.53
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.55
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available