I25T (p.Ile25Thr) variant of GJB6 (Gap junction beta-6 protein)
I25T (p.Ile25Thr) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- gnomAD 13-20223407-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- MetaLR 0.93
- MetaSVM 0.97
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available