R64M (p.Arg64Met) variant of PAX8 (Paired box protein Pax-8)
R64M (p.Arg64Met) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R64M (p.Arg64Met) variant details
- p.Arg64Met
- gnomAD 2-113227115-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 3.83
- Population evidence available
- Structural context available
- Literature evidence available