I28N (p.Ile28Asn) variant of GJB6 (Gap junction beta-6 protein)
I28N (p.Ile28Asn) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I28N (p.Ile28Asn) variant details
- p.Ile28Asn
- gnomAD 13-20223398-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- MetaLR 0.94
- MetaSVM 1.12
- CADD 26.00
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available