p.Gln3 Ile4insVal variant of CPS1 (P31327)
p.Gln3 Ile4insVal in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln3 Ile4insVal variant details
- gnomAD 2-210556724-A-AGT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 10.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available