G56V (p.Gly56Val) variant of PAX8 (Paired box protein Pax-8)
G56V (p.Gly56Val) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- gnomAD 2-113227139-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.51
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available