P6L (p.Pro6Leu) variant of DSC2 (Desmocollin-2)
P6L (p.Pro6Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs1378826078
- ClinGen CA402115301
- ClinVar RCV002028838
- ClinVar RCV005401908
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.01
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- 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)