G23C (p.Gly23Cys) variant of DSP (Desmoplakin)
G23C (p.Gly23Cys) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- gnomAD 6-7541982-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- MetaLR 0.41
- MetaSVM -0.08
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available