G92E (p.Gly92Glu) variant of ABCA4 (P78363)
G92E (p.Gly92Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCA4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G92E (p.Gly92Glu) variant details
- p.Gly92Glu
- rs1156558540
- ClinGen CA341285401
- ClinVar RCV001100158
- TOPMed rs1156558540
- Uncertain significance
- ABCA4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.84
- MetaLR 1.00
- MetaSVM 0.92
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (ABCA4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available