G36S (p.Gly36Ser) variant of DSP (Desmoplakin)
G36S (p.Gly36Ser) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyopathy with wooly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- rs1395509692
- ClinGen CA362675834
- ClinVar RCV000520598
- ClinVar RCV000621177
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyopathy with wooly
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.82
- CADD 22.50
- PolyPhen-2 0.63
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)