M1V (p.Met1Val) variant of DSP (Desmoplakin)
M1V (p.Met1Val) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1131691557
- ClinGen CA362675401
- ClinVar RCV000494668
- ClinVar RCV001188452
- Uncertain significance
- not provided; Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- MetaLR 0.24
- MetaSVM -0.51
- PolyPhen-2 0.32
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Arrhythmogenic cardiomyopathy with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)