S49Y (p.Ser49Tyr) variant of PAX6 (Paired box protein Pax-6)
S49Y (p.Ser49Tyr) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Irido-corneo-trabecular dysgenesis; Aniridia 1; not provided. 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.
S49Y (p.Ser49Tyr) variant details
- p.Ser49Tyr
- rs1554985430
- ClinGen CA379959132
- ClinVar RCV000523067
- ClinVar RCV006556175
- Conflicting interpretations
- Irido-corneo-trabecular dysgenesis; Aniridia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Conflicting classifications of pathogenicity (Irido-corneo-trabecular dysgenesis; Aniridia 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.449
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)