T16S (p.Thr16Ser) variant of CPS1 (P31327)
T16S (p.Thr16Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- TOPMed rs1400264761
- gnomAD rs1400264761
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.33
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available