I52T (p.Ile52Thr) variant of GJB1 (Gap junction beta-1 protein)
I52T (p.Ile52Thr) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available