G34C (p.Gly34Cys) variant of DSP (Desmoplakin)
G34C (p.Gly34Cys) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- gnomAD 6-7542015-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.31
- MetaLR 0.19
- MetaSVM -0.78
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available