G45V (p.Gly45Val) variant of GJB6 (Gap junction beta-6 protein)
G45V (p.Gly45Val) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G45V (p.Gly45Val) variant details
- p.Gly45Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available