T45R (p.Thr45Arg) variant of CPS1 (P31327)
T45R (p.Thr45Arg) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T45R (p.Thr45Arg) variant details
- p.Thr45Arg
- gnomAD 2-210573305-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.74
- CADD 21.40
- PolyPhen-2 0.44
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available