T54S (p.Thr54Ser) variant of CPS1 (P31327)
T54S (p.Thr54Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- gnomAD 2-210573331-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.60
- CADD 19.10
- PolyPhen-2 0.06
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available