T45I (p.Thr45Ile) variant of CDC73 (Parafibromin)
T45I (p.Thr45Ile) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- Ensembl rs1675541393
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.64
- MetaLR 0.56
- MetaSVM 0.17
- CADD 25.30
- PolyPhen-2 0.51
- SIFT 0.01
- Population evidence available
- Structural context available