G991R (p.Gly991Arg) variant of ABCA4 (P78363)
G991R (p.Gly991Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G991R (p.Gly991Arg) variant details
- p.Gly991Arg
- rs61749455
- ClinGen CA227061
- ClinVar RCV000085531
- ClinVar RCV000505091
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- AlphaMissense 0.27
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in FFM and STGD1)
- UniProt: Pathogenic (in FFM and STGD1)
- Most common in the 1KG:ASW population (allele frequency 0.029)
- Structural context available
- Cited in: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR… (PMID 11379881)
- Cited in: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. (PMID 23143460)