D52G (p.Asp52Gly) variant of CPS1 (P31327)
D52G (p.Asp52Gly) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- rs779756731
- ClinGen CA2085952
- ClinVar RCV001919560
- ExAC rs779756731
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.93
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)