F68I (p.Phe68Ile) variant of GJB6 (Gap junction beta-6 protein)
F68I (p.Phe68Ile) 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 variant effect predictions.
F68I (p.Phe68Ile) variant details
- p.Phe68Ile
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53831
- TOPMed rs1869347003
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.96
- MetaSVM 1.05
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.