G56S (p.Gly56Ser) variant of PAX8 (Paired box protein Pax-8)
G56S (p.Gly56Ser) 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.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs149585280
- gnomAD 2-113227140-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 4.50
- Most common in the HGDP:KALASH population (allele frequency 0.048)
- Structural context available
- Literature evidence available