G17S (p.Gly17Ser) variant of CPS1 (P31327)
G17S (p.Gly17Ser) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital hyperammonemia, type I; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs868808195
- ClinGen CA64746652
- ClinVar RCV002050403
- ClinVar RCV005925722
- Conflicting interpretations
- Congenital hyperammonemia, type I; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Congenital hyperammonemia, type I; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)