V35I (p.Val35Ile) variant of PAX8 (Paired box protein Pax-8)
V35I (p.Val35Ile) 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.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- rs868015719
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99640
- TOPMed rs868015719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available