F110L (p.Phe110Leu) variant of DSC2 (Desmocollin-2)
F110L (p.Phe110Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
F110L (p.Phe110Leu) variant details
- p.Phe110Leu
- rs1987620757
- ClinGen CA402114615
- ClinVar RCV003066528
- ClinVar RCV005824423
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- REVEL 0.03
- CADD 8.60
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 11; Cardiovascular ph)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)