E21E (p.Glu21Glu) variant of DSP (Desmoplakin)
E21E (p.Glu21Glu) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E21E (p.Glu21Glu) variant details
- p.Glu21Glu
- rs770404661
- gnomAD 6-7541978-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 12.70
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available