L18R (p.Leu18Arg) variant of DSC2 (Desmocollin-2)
L18R (p.Leu18Arg) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- rs2510963997
- ClinGen CA402115231
- ClinVar RCV004014931
- ClinVar RCV005325900
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.33
- CADD 24.40
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available