A113V (p.Ala113Val) variant of PAX8 (Paired box protein Pax-8)
A113V (p.Ala113Val) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A113V (p.Ala113Val) variant details
- p.Ala113Val
- TOPMed rs1402172401
- gnomAD rs1402172401
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.71
- CADD 24.60
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available