I30V (p.Ile30Val) variant of GJB6 (Gap junction beta-6 protein)
I30V (p.Ile30Val) 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.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.97
- MetaSVM 1.13
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.