G35D (p.Gly35Asp) variant of CPS1 (P31327)
G35D (p.Gly35Asp) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- rs1574520391
- ClinGen CA350432873
- ClinVar RCV000797807
- Ensembl rs1574520391
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.15
- MetaLR 0.83
- MetaSVM 0.50
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.40
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)