R27H (p.Arg27His) variant of DSP (Desmoplakin)
R27H (p.Arg27His) in DSP (Desmoplakin) 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 8; Arrhythm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs770203792
- ClinGen CA051507
- ClinVar RCV004518978
- ClinVar RCV006564858
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 8; Arrhythm
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.35
- MetaLR 0.35
- MetaSVM -0.23
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)