Y161C (p.Tyr161Cys) variant of PKP2 (Plakophilin-2)
Y161C (p.Tyr161Cys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y161C (p.Tyr161Cys) variant details
- p.Tyr161Cys
- rs775789180
- ClinGen CA037575
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.11
- MetaLR 0.67
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.31
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)