W105S (p.Trp105Ser) variant of PAX8 (Paired box protein Pax-8)
W105S (p.Trp105Ser) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
W105S (p.Trp105Ser) variant details
- p.Trp105Ser
- rs1460732015
- gnomAD 2-113227106-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 5.76
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available