E29E (p.Glu29Glu) variant of DSP (Desmoplakin)
E29E (p.Glu29Glu) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- rs774257234
- gnomAD 6-7542002-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 8.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available