M17R (p.Met17Arg) variant of DSP (Desmoplakin)
M17R (p.Met17Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M17R (p.Met17Arg) variant details
- p.Met17Arg
- rs559248100
- ClinGen CA133980064
- ClinVar RCV000702559
- ClinVar RCV002334360
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.33
- MetaLR 0.12
- MetaSVM -0.81
- CADD 24.00
- PolyPhen-2 0.11
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair an)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)