S32P (p.Ser32Pro) variant of CPS1 (P31327)
S32P (p.Ser32Pro) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S32P (p.Ser32Pro) variant details
- p.Ser32Pro
- gnomAD 2-210556827-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.55
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available