N74S (p.Asn74Ser) variant of CPS1 (P31327)
N74S (p.Asn74Ser) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N74S (p.Asn74Ser) variant details
- p.Asn74Ser
- rs1203626815
- ClinGen CA350422217
- ClinVar RCV003058997
- gnomAD rs1203626815
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 0.24
- SIFT 0.12
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)