G1091E (p.Gly1091Glu) variant of ABCA4 (P78363)
G1091E (p.Gly1091Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; not provided; Age related macular degeneration 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G1091E (p.Gly1091Glu) variant details
- p.Gly1091Glu
- rs61752417
- ClinGen CA227099
- ClinVar RCV000085564
- ClinVar RCV000408464
- Likely pathogenic
- Retinal dystrophy; not provided; Age related macular degeneration 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Retinal dystrophy; not provided; Age related macular degeneratio)
- EBI: Pathogenic (in FFM and STGD1)
- UniProt: Pathogenic (in FFM and STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With… (PMID 29847635)
- Cited in: Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. (PMID 9781034)