V58I (p.Val58Ile) variant of PAX8 (Paired box protein Pax-8)
V58I (p.Val58Ile) 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 0.82 / 1. The record also includes population frequency data and structural context.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- rs373578525
- cosmic curated COSV10503
- ESP rs373578525
- ExAC rs373578525
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.85
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available