H16P (p.His16Pro) variant of GJB6 (Gap junction beta-6 protein)
H16P (p.His16Pro) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
H16P (p.His16Pro) variant details
- p.His16Pro
- rs1345877924
- gnomAD 13-20223433-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 29.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available