I35M (p.Ile35Met) variant of GJB6 (Gap junction beta-6 protein)
I35M (p.Ile35Met) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I35M (p.Ile35Met) variant details
- p.Ile35Met
- ExAC rs773325500
- TOPMed rs773325500
- gnomAD rs773325500
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available