V48G (p.Val48Gly) variant of PAX6 (Paired box protein Pax-6)
V48G (p.Val48Gly) 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 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
V48G (p.Val48Gly) variant details
- p.Val48Gly
- rs2135101631
- ClinGen CA379959139
- ClinVar RCV003029603
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.424
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)