W23C (p.Trp23Cys) variant of ASS1 (Argininosuccinate synthase)
W23C (p.Trp23Cys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W23C (p.Trp23Cys) variant details
- p.Trp23Cys
- TOPMed rs1175810875
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available