V42I (p.Val42Ile) variant of PAX8 (Paired box protein Pax-8)
V42I (p.Val42Ile) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- TOPMed rs1463993517
- gnomAD rs1463993517
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available