I25N (p.Ile25Asn) variant of GJB6 (Gap junction beta-6 protein)
I25N (p.Ile25Asn) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I25N (p.Ile25Asn) variant details
- p.Ile25Asn
- ExAC rs762699476
- gnomAD rs762699476
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 26.50
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available