V23M (p.Val23Met) variant of CPS1 (P31327)
V23M (p.Val23Met) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- gnomAD 2-210556800-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.21
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available