H8R (p.His8Arg) variant of DSP (Desmoplakin)
H8R (p.His8Arg) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H8R (p.His8Arg) variant details
- p.His8Arg
- gnomAD 6-7541938-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available