A38S (p.Ala38Ser) variant of PAX8 (Paired box protein Pax-8)
A38S (p.Ala38Ser) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- gnomAD 2-113227143-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 5.40
- Population evidence available
- Structural context available
- Literature evidence available