T56I (p.Thr56Ile) variant of XPA (P23025)
T56I (p.Thr56Ile) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- ExAC rs781569303
- gnomAD rs781569303
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available