I30T (p.Ile30Thr) variant of GJB6 (Gap junction beta-6 protein)
I30T (p.Ile30Thr) 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 and published literature.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- gnomAD 13-20223392-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.00
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available