V83A (p.Val83Ala) variant of PAX6 (Paired box protein Pax-6)
V83A (p.Val83Ala) 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 Irido-corneo-trabecular dysgenesis; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
V83A (p.Val83Ala) variant details
- p.Val83Ala
- rs2135095172
- ClinGen CA379958716
- cosmic curated COSV10501
- ClinVar RCV002043644
- Uncertain significance
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Uncertain significance (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)