N12D (p.Asn12Asp) variant of DSP (Desmoplakin)
N12D (p.Asn12Asp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N12D (p.Asn12Asp) variant details
- p.Asn12Asp
- gnomAD 6-7541949-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- CADD 27.20
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available