E29Q (p.Glu29Gln) variant of DSP (Desmoplakin)
E29Q (p.Glu29Gln) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- gnomAD 6-7542000-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.23
- MetaLR 0.35
- MetaSVM -0.23
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available