G6P (p.Gly6Pro) variant of DSP (Desmoplakin)
G6P (p.Gly6Pro) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G6P (p.Gly6Pro) variant details
- p.Gly6Pro
- rs2113628481
- gnomAD 6-7541929-GAGGCT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 29.70
- Population evidence available
- Structural context available
- Literature evidence available