P69T (p.Pro69Thr) variant of DSC2 (Desmocollin-2)
P69T (p.Pro69Thr) 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 0.47 / 1. The record also includes published literature and structural context.
P69T (p.Pro69Thr) variant details
- p.Pro69Thr
- rs1987627721
- ClinGen CA402114889
- ClinVar RCV003845748
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.19
- PolyPhen-2 0.83
- SIFT 0.01
- EVE 0.50
- 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)