P22L (p.Pro22Leu) variant of PAX6 (Paired box protein Pax-6)
P22L (p.Pro22Leu) 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 Irido-corneo-trabecular dysgenesis; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs1954533614
- ClinGen CA379959619
- ClinVar RCV001061481
- Ensembl rs1954533614
- Uncertain significance
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.225
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)