H8T (p.His8Thr) variant of DSP (Desmoplakin)
H8T (p.His8Thr) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
H8T (p.His8Thr) variant details
- p.His8Thr
- rs2113628491
- gnomAD 6-7541935-C-CGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available