S65F (p.Ser65Phe) variant of CPS1 (P31327)
S65F (p.Ser65Phe) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- rs375979196
- ClinGen CA2085959
- ClinVar RCV002976729
- UniProt VAR 066173
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.66
- CADD 23.10
- PolyPhen-2 0.41
- SIFT 0.02
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 6.1e-05)
- Structural context available
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)