K9Q (p.Lys9Gln) variant of CPS1 (P31327)
K9Q (p.Lys9Gln) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K9Q (p.Lys9Gln) variant details
- p.Lys9Gln
- gnomAD 2-210556731-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available