S2M (p.Ser2Met) variant of DSP (Desmoplakin)
S2M (p.Ser2Met) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S2M (p.Ser2Met) variant details
- p.Ser2Met
- rs2113628405
- gnomAD 6-7541919-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available