S227R (p.Ser227Arg) variant of PKP2 (Plakophilin-2)
S227R (p.Ser227Arg) 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.
S227R (p.Ser227Arg) variant details
- p.Ser227Arg
- rs762263587
- ClinGen CA384363430
- NCI-TCGA Cosmic COSV9929
- ClinVar RCV004153471
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.28
- MetaLR 0.32
- MetaSVM -0.74
- PolyPhen-2 0.30
- SIFT 0.02
- EVE 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available