G120E (p.Gly120Glu) variant of RPGR (Q92834)
G120E (p.Gly120Glu) in RPGR (Q92834) 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.
G120E (p.Gly120Glu) variant details
- p.Gly120Glu
- rs2519895072
- ClinGen CA412745228
- ClinVar RCV002465099
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available