I30T (p.Ile30Thr) variant of GJB2 (Gap junction beta-2 protein)
I30T (p.Ile30Thr) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- rs2500253112
- ClinGen CA387462017
- ClinVar RCV003573586
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available