T21I (p.Thr21Ile) variant of DSC2 (Desmocollin-2)
T21I (p.Thr21Ile) in DSC2 (Desmocollin-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 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs931909783
- ClinGen CA402115216
- ClinVar RCV003870061
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.32
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- 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)