D68H (p.Asp68His) variant of DSC2 (Desmocollin-2)
D68H (p.Asp68His) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D68H (p.Asp68His) variant details
- p.Asp68His
- ExAC rs753454991
- gnomAD rs753454991
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.48
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available