V29M (p.Val29Met) variant of PAX8 (Paired box protein Pax-8)
V29M (p.Val29Met) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- ExAC rs750442664
- gnomAD rs750442664
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available