A38T (p.Ala38Thr) variant of PAX8 (Paired box protein Pax-8)
A38T (p.Ala38Thr) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs1689628671
- gnomAD 2-113227143-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 7.30
- Population evidence available
- Structural context available
- Literature evidence available