T101A (p.Thr101Ala) variant of DSC2 (Desmocollin-2)
T101A (p.Thr101Ala) 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; Arrhythmogenic right ventricular dysplasia 11; Cardiom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T101A (p.Thr101Ala) variant details
- p.Thr101Ala
- rs1372970572
- ClinGen CA402114679
- ClinVar RCV001912709
- ClinVar RCV003533050
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.10
- CADD 14.20
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)