V30I (p.Val30Ile) variant of PAX6 (Paired box protein Pax-6)
V30I (p.Val30Ile) 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 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- rs768554144
- ClinGen CA5933975
- ClinVar RCV002612188
- ExAC rs768554144
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.0605
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)