V23V (p.Val23Val) variant of GJB6 (Gap junction beta-6 protein)
V23V (p.Val23Val) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
V23V (p.Val23Val) variant details
- p.Val23Val
- rs1869360648
- gnomAD 13-20223412-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 6.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available