I76M (p.Ile76Met) variant of PAX8 (Paired box protein Pax-8)
I76M (p.Ile76Met) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I76M (p.Ile76Met) variant details
- p.Ile76Met
- gnomAD rs943067906
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.80
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available