I9N (p.Ile9Asn) variant of GJB2 (Gap junction beta-2 protein)
I9N (p.Ile9Asn) in GJB2 (Gap junction beta-2 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.
I9N (p.Ile9Asn) variant details
- p.Ile9Asn
- gnomAD 13-20189556-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.76
- MetaLR 0.93
- MetaSVM 1.03
- CADD 22.70
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available