R27L (p.Arg27Leu) variant of DSP (Desmoplakin)
R27L (p.Arg27Leu) 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.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- gnomAD 6-7541995-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.39
- MetaLR 0.34
- MetaSVM -0.25
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available