Q48K (p.Gln48Lys) variant of GJB6 (Gap junction beta-6 protein)
Q48K (p.Gln48Lys) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available