S7R (p.Ser7Arg) variant of CHM (P24386)
S7R (p.Ser7Arg) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs2521065589
- ClinGen CA2580102044
- ClinVar RCV002863816
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available