R64G (p.Arg64Gly) variant of PAX8 (Paired box protein Pax-8)
R64G (p.Arg64Gly) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R64G (p.Arg64Gly) variant details
- p.Arg64Gly
- rs768894041
- gnomAD 2-113227116-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 2.71
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available