S89L (p.Ser89Leu) variant of DSC2 (Desmocollin-2)
S89L (p.Ser89Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S89L (p.Ser89Leu) variant details
- p.Ser89Leu
- rs141379407
- ClinGen CA037529
- ClinVar RCV000555831
- ClinVar RCV001177887
- Conflicting interpretations
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.10
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-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)