F250S (p.Phe250Ser) variant of DSC2 (Desmocollin-2)
F250S (p.Phe250Ser) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F250S (p.Phe250Ser) variant details
- p.Phe250Ser
- rs746173561
- ClinGen CA8924795
- ClinVar RCV000626328
- ExAC rs746173561
- Likely pathogenic
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.38
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)