R19S (p.Arg19Ser) variant of DSP (Desmoplakin)
R19S (p.Arg19Ser) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs777340009
- ClinGen CA362675607
- ClinVar RCV000794965
- ClinVar RCV000841345
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.36
- MetaLR 0.34
- MetaSVM -0.24
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)