R38G (p.Arg38Gly) variant of PAX6 (Paired box protein Pax-6)
R38G (p.Arg38Gly) 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 not provided; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs397514640
- ClinGen CA379959519
- ClinVar RCV000789036
- ClinVar RCV001249825
- Pathogenic/Likely pathogenic
- not provided; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Aniridia 1)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.621
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)