Q40H (p.Gln40His) variant of PAX8 (Paired box protein Pax-8)
Q40H (p.Gln40His) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- cosmic curated COSV99639
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.66
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available