V126D (p.Val126Asp) variant of PAX6 (Paired box protein Pax-6)
V126D (p.Val126Asp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PAX6-related ocular dysgenesis; Irido-corneo-trabecular dysgenesis; Foveal hypop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
V126D (p.Val126Asp) variant details
- p.Val126Asp
- rs121907919
- ClinGen CA116224
- cosmic curated COSV53795
- ClinVar RCV000003636
- Pathogenic/Likely pathogenic
- PAX6-related ocular dysgenesis; Irido-corneo-trabecular dysgenesis; Foveal hypop
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (PAX6-related ocular dysgenesis; Irido-corneo-trabecular dysgenes)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- Cited in: Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye… (PMID 9931324)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)