P40T (p.Pro40Thr) variant of DSC2 (Desmocollin-2)
P40T (p.Pro40Thr) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- rs1987671927
- ClinGen CA402115081
- ClinVar RCV002900057
- ClinVar RCV003533309
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)