R16P (p.Arg16Pro) variant of DSP (Desmoplakin)
R16P (p.Arg16Pro) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs752387234
- ClinGen CA006233
- ClinVar RCV000181354
- ClinVar RCV000691756
- Conflicting interpretations
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.46
- MetaLR 0.35
- MetaSVM -0.20
- CADD 28.00
- PolyPhen-2 0.97
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)