H8H (p.His8His) variant of DSP (Desmoplakin)
H8H (p.His8His) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H8H (p.His8His) variant details
- p.His8His
- gnomAD 6-7541939-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available