P9H (p.Pro9His) variant of KCNJ11 (Q14654)
P9H (p.Pro9His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Permanent neonatal diabetes mellitus. The record also includes structural context.
P9H (p.Pro9His) variant details
- p.Pro9His
- Ensembl rs1953594033
- Uncertain significance
- Permanent neonatal diabetes mellitus
- Missense
- ClinVar: Uncertain significance (Permanent neonatal diabetes mellitus)
- UniProt: Uncertain significance
- Structural context available