G64V (p.Gly64Val) variant of PAX6 (Paired box protein Pax-6)
G64V (p.Gly64Val) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Foveal hypoplasia 1 with cataract; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- rs121907920
- ClinGen CA116227
- ClinVar RCV000003637
- ClinVar RCV000984384
- Pathogenic
- Foveal hypoplasia 1 with cataract; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Foveal hypoplasia 1 with cataract; Aniridia 1)
- EBI: Pathogenic (in foveal hypoplasia)
- UniProt: Pathogenic (in foveal hypoplasia)
- 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)