M1R (p.Met1Arg) variant of DSP (Desmoplakin)
M1R (p.Met1Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs748738880
- ClinGen CA036576
- ClinVar RCV000493448
- ClinVar RCV001204253
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- MetaLR 0.30
- MetaSVM -0.37
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)