I10F (p.Ile10Phe) variant of GJB6 (Gap junction beta-6 protein)
I10F (p.Ile10Phe) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
I10F (p.Ile10Phe) variant details
- p.Ile10Phe
- ExAC rs769071134
- gnomAD rs769071134
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 17.50
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)