S2F (p.Ser2Phe) variant of DSP (Desmoplakin)
S2F (p.Ser2Phe) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- gnomAD 6-7541918-G-GTTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available