T45T (p.Thr45Thr) variant of CPS1 (P31327)
T45T (p.Thr45Thr) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- rs1414234472
- gnomAD 2-210573306-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.69
- Population evidence available
- Structural context available
- Literature evidence available