G33S (p.Gly33Ser) variant of DSP (Desmoplakin)
G33S (p.Gly33Ser) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G33S (p.Gly33Ser) variant details
- p.Gly33Ser
- rs1581777550
- ClinGen CA362675796
- ClinVar RCV000804549
- ClinVar RCV001178452
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.51
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.27
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)