Q27H (p.Gln27His) variant of CPS1 (P31327)
Q27H (p.Gln27His) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- gnomAD 2-210556724-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available