T8P (p.Thr8Pro) variant of GJB6 (Gap junction beta-6 protein)
T8P (p.Thr8Pro) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- gnomAD 13-20223459-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- MetaLR 0.90
- MetaSVM 0.67
- CADD 19.80
- PolyPhen-2 0.51
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available