A28D (p.Ala28Asp) variant of DSC2 (Desmocollin-2)
A28D (p.Ala28Asp) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- rs865966331
- ClinGen CA402115161
- ClinVar RCV002434895
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.33
- CADD 20.30
- PolyPhen-2 0.69
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available