A43V (p.Ala43Val) variant of CPS1 (P31327)

Name: CPS1 A43V (p.Ala43Val) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

A43V (p.Ala43Val) in CPS1 (P31327) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CPS1D. The record also includes published literature and structural context.

A43V (p.Ala43Val) variant details

p.Ala43Val
UniProt VAR 066171
Pathogenic
in CPS1D
Missense
EBI: Pathogenic (in CPS1D)
UniProt: Pathogenic (in CPS1D)
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)