H160Y (p.His160Tyr) variant of PKP2 (Plakophilin-2)
H160Y (p.His160Tyr) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H160Y (p.His160Tyr) variant details
- p.His160Tyr
- rs1360804472
- ClinGen CA384365071
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50739
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.90
- CADD 0.83
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)