G36C (p.Gly36Cys) variant of DSP (Desmoplakin)
G36C (p.Gly36Cys) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G36C (p.Gly36Cys) variant details
- p.Gly36Cys
- gnomAD 6-7542021-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- MetaLR 0.35
- MetaSVM -0.56
- CADD 24.00
- PolyPhen-2 0.89
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available