R52M (p.Arg52Met) variant of PAX8 (Paired box protein Pax-8)
R52M (p.Arg52Met) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R52M (p.Arg52Met) variant details
- p.Arg52Met
- gnomAD 2-113227145-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available