G6C (p.Gly6Cys) variant of DSP (Desmoplakin)
G6C (p.Gly6Cys) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 6-7541931-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.48
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available