A20S (p.Ala20Ser) variant of DSP (Desmoplakin)
A20S (p.Ala20Ser) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 6-7541973-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.06
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available