G36D (p.Gly36Asp) variant of DSP (Desmoplakin)
G36D (p.Gly36Asp) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs778506459
- ClinGen CA362675839
- ClinVar RCV004015681
- ClinVar RCV006564673
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.37
- MetaLR 0.25
- MetaSVM -0.85
- CADD 22.80
- PolyPhen-2 0.81
- SIFT 0.10
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)