P51T (p.Pro51Thr) variant of CDC73 (Parafibromin)
P51T (p.Pro51Thr) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P51T (p.Pro51Thr) variant details
- p.Pro51Thr
- gnomAD 1-193125131-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.35
- MetaLR 0.48
- MetaSVM -0.28
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available