G607R (p.Gly607Arg) variant of ABCA4 (P78363)
G607R (p.Gly607Arg) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G607R (p.Gly607Arg) variant details
- p.Gly607Arg
- rs61749412
- ClinGen CA341279593
- ClinVar RCV000625951
- ClinVar RCV001239085
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cone-rod dystrophy 3; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)