S7P (p.Ser7Pro) variant of DSP (Desmoplakin)
S7P (p.Ser7Pro) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- gnomAD 6-7541934-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- CADD 29.20
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available