L74S (p.Leu74Ser) variant of DSC2 (Desmocollin-2)
L74S (p.Leu74Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L74S (p.Leu74Ser) variant details
- p.Leu74Ser
- gnomAD rs1987626757
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.33
- CADD 26.50
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available