S85G (p.Ser85Gly) variant of PAX6 (Paired box protein Pax-6)
S85G (p.Ser85Gly) 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 not provided. The record also includes structural context.
S85G (p.Ser85Gly) variant details
- p.Ser85Gly
- rs2496138389
- ClinGen CA379958697
- ClinVar RCV003390032
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available