P69S (p.Pro69Ser) variant of DSC2 (Desmocollin-2)
P69S (p.Pro69Ser) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy; Familial isolated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- rs1987627721
- ClinGen CA402114887
- NCI-TCGA Cosmic COSV5186
- cosmic curated COSV51860
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy; Familial isolated
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.19
- CADD 23.40
- PolyPhen-2 0.83
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy; F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)