S32G (p.Ser32Gly) variant of DSP (Desmoplakin)
S32G (p.Ser32Gly) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- rs2113628871
- ClinGen CA362675780
- ClinVar RCV001886827
- Ensembl rs2113628871
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.05
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.61
- MutPred 0.16
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- 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)