D36E (p.Asp36Glu) variant of PAX8 (Paired box protein Pax-8)
D36E (p.Asp36Glu) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- gnomAD rs1156243827
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.50
- CADD 21.30
- PolyPhen-2 0.71
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available