T36A (p.Thr36Ala) variant of DSC2 (Desmocollin-2)
T36A (p.Thr36Ala) 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 0.32 / 1. The record also includes published literature and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- rs2144850401
- ClinGen CA402115108
- ClinVar RCV001887928
- Ensembl rs2144850401
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.94
- PolyPhen-2 0.24
- SIFT 0.18
- EVE 0.25
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)