G19S (p.Gly19Ser) variant of CPS1 (P31327)
G19S (p.Gly19Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- gnomAD rs1696926771
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.32
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available