Q243H (p.Gln243His) variant of IMPDH1 (P20839)
Q243H (p.Gln243His) in IMPDH1 (P20839) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
Q243H (p.Gln243His) variant details
- p.Gln243His
- rs886037911
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic