K57Q (p.Lys57Gln) variant of CPS1 (P31327)
K57Q (p.Lys57Gln) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K57Q (p.Lys57Gln) variant details
- p.Lys57Gln
- gnomAD 2-210573340-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.49
- CADD 20.30
- PolyPhen-2 0.09
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available