G72S (p.Gly72Ser) variant of PAX6 (Paired box protein Pax-6)
G72S (p.Gly72Ser) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- rs759557055
- ClinGen CA5933929
- ClinVar RCV003037378
- ExAC rs759557055
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)