D70E (p.Asp70Glu) variant of DSC2 (Desmocollin-2)
D70E (p.Asp70Glu) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- Ensembl rs1467567461
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available