T16P (p.Thr16Pro) variant of CPS1 (P31327)
T16P (p.Thr16Pro) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T16P (p.Thr16Pro) variant details
- p.Thr16Pro
- TOPMed rs1400264761
- gnomAD rs1400264761
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.42
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available