G62S (p.Gly62Ser) variant of CPS1 (P31327)
G62S (p.Gly62Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- gnomAD 2-210573355-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available