T45N (p.Thr45Asn) variant of CDC73 (Parafibromin)
T45N (p.Thr45Asn) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T45N (p.Thr45Asn) variant details
- p.Thr45Asn
- gnomAD 1-193125114-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.45
- MetaLR 0.49
- MetaSVM -0.10
- CADD 23.30
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available