T68A (p.Thr68Ala) variant of PAX8 (Paired box protein Pax-8)
T68A (p.Thr68Ala) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T68A (p.Thr68Ala) variant details
- p.Thr68Ala
- rs776767792
- gnomAD 2-113227125-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.17
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Literature evidence available