T31I (p.Thr31Ile) variant of DSP (Desmoplakin)
T31I (p.Thr31Ile) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- gnomAD 6-7542007-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.02
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available