S2T (p.Ser2Thr) variant of DSP (Desmoplakin)
S2T (p.Ser2Thr) 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 0.32 / 1. The record also includes published literature and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs2113628400
- ClinGen CA362675411
- ClinVar RCV003797825
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.28
- MetaLR 0.11
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.10
- 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)