I20V (p.Ile20Val) variant of GJB6 (Gap junction beta-6 protein)
I20V (p.Ile20Val) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- ExAC rs749915780
- TOPMed rs749915780
- gnomAD rs749915780
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)