R451G (p.Arg451Gly) variant of DSP (Desmoplakin)
R451G (p.Arg451Gly) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R451G (p.Arg451Gly) variant details
- p.Arg451Gly
- rs1057518309
- ClinGen CA362676532
- NCI-TCGA Cosmic COSV6579
- ClinVar RCV001220083
- Pathogenic
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.73
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Pathogenic (in DCWHKTA)
- UniProt: Pathogenic (in DCWHKTA)
- 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)