A38V (p.Ala38Val) variant of PAX8 (Paired box protein Pax-8)
A38V (p.Ala38Val) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 2-113227142-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 11.30
- Population evidence available
- Structural context available
- Literature evidence available