G72R (p.Gly72Arg) variant of ABCA4 (P78363)
G72R (p.Gly72Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related disorder; Retinal dystrophy; not specified. 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.
G72R (p.Gly72Arg) variant details
- p.Gly72Arg
- rs61751412
- ClinGen CA226983
- ClinVar RCV000085464
- ClinVar RCV000787776
- Pathogenic/Likely pathogenic
- ABCA4-related disorder; Retinal dystrophy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related disorder; Retinal dystrophy; not specified)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With… (PMID 29847635)