S43F (p.Ser43Phe) variant of PAX6 (Paired box protein Pax-6)
S43F (p.Ser43Phe) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- rs1592562836
- ClinGen CA379959482
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53794
- Pathogenic/Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.186
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)