S8P (p.Ser8Pro) variant of PAX8 (Paired box protein Pax-8)
S8P (p.Ser8Pro) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- TOPMed rs1183904128
- gnomAD rs1183904128
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.47
- CADD 24.40
- PolyPhen-2 0.80
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available