L14Q (p.Leu14Gln) variant of DSP (Desmoplakin)
L14Q (p.Leu14Gln) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 6-7541956-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.39
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available