T31A (p.Thr31Ala) variant of DSP (Desmoplakin)
T31A (p.Thr31Ala) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- ExAC rs767301698
- gnomAD rs767301698
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.01
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available