p.Cys3 Asn4delinsTyr variant of DSP (Desmoplakin)
p.Cys3 Asn4delinsTyr in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
p.Cys3 Asn4delinsTyr variant details
- rs2113628425
- gnomAD 6-7541922-TGCA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available