G863A (p.Gly863Ala) variant of ABCA4 (P78363)
G863A (p.Gly863Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G863A (p.Gly863Ala) variant details
- p.Gly863Ala
- rs76157638
- ClinGen CA119128
- ClinVar RCV000008328
- ClinVar RCV000008329
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.80
- MetaLR 0.44
- MetaSVM 0.06
- CADD 31.00
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1, FFM and CORD3)
- UniProt: Pathogenic (in STGD1, FFM and CORD3)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)
- Cited in: A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. (PMID 10612508)