T55I (p.Thr55Ile) variant of GJB2 (Gap junction beta-2 protein)
T55I (p.Thr55Ile) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10124
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available