K28N (p.Lys28Asn) variant of CPS1 (P31327)
K28N (p.Lys28Asn) in CPS1 (P31327) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- NCI-TCGA TCGA novel
- 1000Genomes rs574128765
- ExAC rs574128765
- TOPMed rs574128765
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available