P34S (p.Pro34Ser) variant of CPS1 (P31327)
P34S (p.Pro34Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD 2-210556833-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available