L14P (p.Leu14Pro) variant of DSP (Desmoplakin)
L14P (p.Leu14Pro) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 6-7541956-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.55
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available