D25Y (p.Asp25Tyr) variant of DSP (Desmoplakin)
D25Y (p.Asp25Tyr) 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 0.47 / 1. The record also includes published literature and structural context.
D25Y (p.Asp25Tyr) variant details
- p.Asp25Tyr
- rs2113628779
- ClinGen CA362675684
- ClinVar RCV001961130
- ClinVar RCV004010996
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.57
- MetaLR 0.41
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)