Q28E (p.Gln28Glu) variant of RHO (Rhodopsin)
Q28E (p.Gln28Glu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- rs2108749182
- ClinGen CA354495577
- ClinVar RCV003890824
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance (in RP4)
- UniProt: Uncertain significance (in RP4)
- Structural context available