R19H (p.Arg19His) variant of DSP (Desmoplakin)
R19H (p.Arg19His) 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; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs1757992558
- ClinGen CA362675616
- ClinVar RCV001956971
- ClinVar RCV002344127
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.38
- MetaLR 0.35
- MetaSVM -0.21
- CADD 29.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)