T18N (p.Thr18Asn) variant of GJB6 (Gap junction beta-6 protein)
T18N (p.Thr18Asn) 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 and structural context.
T18N (p.Thr18Asn) variant details
- p.Thr18Asn
- NCI-TCGA Cosmic COSV5383
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.99
- MetaSVM 1.02
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available