G7* (p.Gly7Ter) variant of PAX6 (Paired box protein Pax-6)
G7* (p.Gly7Ter) in PAX6 (Paired box protein Pax-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
G7* (p.Gly7Ter) variant details
- p.Gly7Ter
- rs1131692285
- ClinGen CA379959719
- ClinVar RCV000984352
- Ensembl rs1131692285
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.37
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.127
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)