P34H (p.Pro34His) variant of CPS1 (P31327)
P34H (p.Pro34His) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P34H (p.Pro34His) variant details
- p.Pro34His
- gnomAD rs1203974161
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.33
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available