Q104K (p.Gln104Lys) variant of DSC2 (Desmocollin-2)
Q104K (p.Gln104Lys) 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 0.24 / 1. The record also includes population frequency data and structural context.
Q104K (p.Gln104Lys) variant details
- p.Gln104Lys
- rs2510956015
- ClinGen CA402114659
- ClinVar RCV002326065
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available