T82K (p.Thr82Lys) variant of DSC2 (Desmocollin-2)
T82K (p.Thr82Lys) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T82K (p.Thr82Lys) variant details
- p.Thr82Lys
- rs1267065182
- ClinGen CA402114799
- ClinVar RCV002430726
- ClinVar RCV003228083
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)