I9T (p.Ile9Thr) variant of GJB2 (Gap junction beta-2 protein)
I9T (p.Ile9Thr) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I9T (p.Ile9Thr) variant details
- p.Ile9Thr
- gnomAD 13-20189556-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.72
- MetaLR 0.93
- MetaSVM 0.94
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available