P24Q (p.Pro24Gln) variant of DSP (Desmoplakin)
P24Q (p.Pro24Gln) 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.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- gnomAD 6-7541986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.15
- MetaLR 0.23
- MetaSVM -0.57
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available