G53E (p.Gly53Glu) variant of CPS1 (P31327)
G53E (p.Gly53Glu) in CPS1 (P31327) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- ESP rs140092912
- ExAC rs140092912
- TOPMed rs140092912
- gnomAD rs140092912
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.96
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available