G41D (p.Gly41Asp) variant of PAX8 (Paired box protein Pax-8)
G41D (p.Gly41Asp) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- rs2104507757
- ClinGen CA348303446
- ClinVar RCV001574478
- Ensembl rs2104507757
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available