G7V (p.Gly7Val) variant of PAX6 (Paired box protein Pax-6)
G7V (p.Gly7Val) 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 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- rs1190491499
- ClinGen CA379959714
- ClinVar RCV001927909
- gnomAD rs1190491499
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.127
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)