R52G (p.Arg52Gly) variant of PAX8 (Paired box protein Pax-8)
R52G (p.Arg52Gly) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- gnomAD 2-113227146-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.86
- Population evidence available
- Structural context available
- Literature evidence available