L622P (p.Leu622Pro) variant of DSP (Desmoplakin)
L622P (p.Leu622Pro) 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 record also includes published literature and structural context.
L622P (p.Leu622Pro) variant details
- p.Leu622Pro
- rs1554107098
- ClinGen CA362679638
- ClinVar RCV000412530
- ClinVar RCV005222913
- Pathogenic
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- ClinVar: Pathogenic (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Pathogenic (in DCWHKTA)
- UniProt: Pathogenic (in DCWHKTA)
- Structural context available
- Cited in: Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. (PMID 26604139)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)