V30I (p.Val30Ile) variant of PAX8 (Paired box protein Pax-8)
V30I (p.Val30Ile) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- rs765091370
- ExAC rs765091370
- TOPMed rs765091370
- gnomAD rs765091370
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.47
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available