D44N (p.Asp44Asn) variant of DSC2 (Desmocollin-2)
D44N (p.Asp44Asn) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- TOPMed rs1824034701
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.35
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available