Q229P (p.Gln229Pro) variant of CDH2 (Cadherin-2)
Q229P (p.Gln229Pro) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Arrhythmogenic right ventricular dysplasia, familial, 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q229P (p.Gln229Pro) variant details
- p.Gln229Pro
- rs965753331
- ClinGen CA402243425
- ClinVar RCV001194670
- UniProt VAR 084439
- Pathogenic
- Arrhythmogenic right ventricular dysplasia, familial, 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.84
- MetaLR 0.15
- MetaSVM -0.83
- PolyPhen-2 0.79
- SIFT 0.06
- EVE 0.48
- ClinVar: Pathogenic (Arrhythmogenic right ventricular dysplasia, familial, 14)
- EBI: Pathogenic (in ARVD14)
- UniProt: Pathogenic (in ARVD14)
- Structural context available
- Cited in: Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. (PMID 28280076)
- Cited in: Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate… (PMID 28326674)