P20S (p.Pro20Ser) variant of PAX6 (Paired box protein Pax-6)
P20S (p.Pro20Ser) 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 Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- rs2496303548
- ClinGen CA379959633
- ClinVar RCV003790462
- NCI-TCGA TCGA novel
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 24.10
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.564
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)