I4F (p.Ile4Phe) variant of CPS1 (P31327)
I4F (p.Ile4Phe) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I4F (p.Ile4Phe) variant details
- p.Ile4Phe
- rs201874641
- gnomAD 2-210556728-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available