V53I (p.Val53Ile) variant of PAX8 (Paired box protein Pax-8)
V53I (p.Val53Ile) 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 0.77 / 1. The record also includes population frequency data and structural context.
V53I (p.Val53Ile) variant details
- p.Val53Ile
- rs1336411411
- TOPMed rs1336411411
- gnomAD rs1336411411
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.77
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available