Q89P (p.Gln89Pro) variant of PAX6 (Paired box protein Pax-6)
Q89P (p.Gln89Pro) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 11p partial monosomy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
Q89P (p.Gln89Pro) variant details
- p.Gln89Pro
- rs1167005463
- ClinGen CA379958634
- ClinVar RCV000768370
- ClinVar RCV000994596
- Uncertain significance
- not provided; 11p partial monosomy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.07
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.98
- SIFT 0.09
- EVE 0.16
- ClinVar: Uncertain significance (not provided; 11p partial monosomy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)