D70H (p.Asp70His) variant of DSC2 (Desmocollin-2)
D70H (p.Asp70His) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D70H (p.Asp70His) variant details
- p.Asp70His
- ExAC rs779847119
- gnomAD rs779847119
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 24.10
- PolyPhen-2 0.51
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available