G15C (p.Gly15Cys) variant of DSP (Desmoplakin)
G15C (p.Gly15Cys) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G15C (p.Gly15Cys) variant details
- p.Gly15Cys
- gnomAD 6-7541958-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.56
- MetaLR 0.41
- MetaSVM -0.07
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available