T57I (p.Thr57Ile) variant of KCNJ10 (P78508)
T57I (p.Thr57Ile) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of EAST syndrome. The record also includes structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- rs2525431132
- ClinGen CA343229787
- ClinVar RCV003985003
- Likely pathogenic
- EAST syndrome
- Missense
- ClinVar: Likely pathogenic (EAST syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available