T75S (p.Thr75Ser) variant of CPS1 (P31327)
T75S (p.Thr75Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T75S (p.Thr75Ser) variant details
- p.Thr75Ser
- gnomAD 2-210573394-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.95
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available