H55Q (p.His55Gln) variant of PAX8 (Paired box protein Pax-8)
H55Q (p.His55Gln) in PAX8 (Paired box protein Pax-8) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
H55Q (p.His55Gln) variant details
- p.His55Gln
- rs121908742
- ClinGen CA233200
- ClinVar RCV000144426
- Ensembl rs121908742
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Structural context available