S7A (p.Ser7Ala) variant of DSP (Desmoplakin)
S7A (p.Ser7Ala) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S7A (p.Ser7Ala) variant details
- p.Ser7Ala
- gnomAD 6-7541934-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.26
- CADD 26.60
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available