T45I (p.Thr45Ile) variant of CPS1 (P31327)
T45I (p.Thr45Ile) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- gnomAD 2-210573305-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.54
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available