R16S (p.Arg16Ser) variant of DSP (Desmoplakin)
R16S (p.Arg16Ser) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- rs754773488
- ClinGen CA042548
- ClinVar RCV000774426
- ClinVar RCV003768377
- Conflicting interpretations
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- MetaLR 0.31
- MetaSVM -0.33
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)