M1601I (p.Met1601Ile) variant of DSP (Desmoplakin)
M1601I (p.Met1601Ile) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic right ventricular cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M1601I (p.Met1601Ile) variant details
- p.Met1601Ile
- rs869025392
- ClinGen CA354006
- ClinVar RCV000208438
- TOPMed rs869025392
- Likely pathogenic
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.22
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)