T13P (p.Thr13Pro) variant of DSP (Desmoplakin)
T13P (p.Thr13Pro) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T13P (p.Thr13Pro) variant details
- p.Thr13Pro
- gnomAD 6-7541952-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- CADD 27.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available