A20T (p.Ala20Thr) variant of DSP (Desmoplakin)
A20T (p.Ala20Thr) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD 6-7541973-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available