S22Y (p.Ser22Tyr) variant of DSP (Desmoplakin)
S22Y (p.Ser22Tyr) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S22Y (p.Ser22Tyr) variant details
- p.Ser22Tyr
- gnomAD 6-7541980-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.21
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available