C3G (p.Cys3Gly) variant of DSP (Desmoplakin)
C3G (p.Cys3Gly) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C3G (p.Cys3Gly) variant details
- p.Cys3Gly
- gnomAD 6-7541922-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available