I20L (p.Ile20Leu) variant of GJB6 (Gap junction beta-6 protein)
I20L (p.Ile20Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- ExAC rs749915780
- TOPMed rs749915780
- gnomAD rs749915780
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 2.4e-05)