Q72E (p.Gln72Glu) variant of DSC2 (Desmocollin-2)
Q72E (p.Gln72Glu) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q72E (p.Gln72Glu) variant details
- p.Gln72Glu
- gnomAD rs1269634348
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.03
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available