V67I (p.Val67Ile) variant of CPS1 (P31327)
V67I (p.Val67Ile) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- gnomAD 2-210573370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.27
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available