G11S (p.Gly11Ser) variant of PKP2 (Plakophilin-2)
G11S (p.Gly11Ser) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- rs1250140346
- ClinGen CA384371728
- ClinVar RCV003532792
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.47
- MetaLR 0.65
- MetaSVM 0.30
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)