S2R (p.Ser2Arg) variant of DSP (Desmoplakin)
S2R (p.Ser2Arg) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 6-7541921-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available