R3M (p.Arg3Met) variant of CPS1 (P31327)
R3M (p.Arg3Met) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R3M (p.Arg3Met) variant details
- p.Arg3Met
- rs750705469
- ClinGen CA2085924
- ClinVar RCV002019673
- ExAC rs750705469
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.64
- AlphaMissense 0.42
- MetaLR 0.88
- MetaSVM 0.98
- CADD 25.90
- PolyPhen-2 0.99
- 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)