S22P (p.Ser22Pro) variant of DSP (Desmoplakin)
S22P (p.Ser22Pro) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- rs2113628752
- ClinGen CA362675643
- cosmic curated COSV10822
- ClinVar RCV001973829
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.39
- MetaLR 0.32
- MetaSVM -0.32
- CADD 28.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)