R27S (p.Arg27Ser) variant of DSP (Desmoplakin)
R27S (p.Arg27Ser) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- gnomAD 6-7541994-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.32
- MetaLR 0.34
- MetaSVM -0.26
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available