G1862R (p.Gly1862Arg) variant of ABCA4 (P78363)
G1862R (p.Gly1862Arg) 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 0.82 / 1. The record also includes structural context.
G1862R (p.Gly1862Arg) variant details
- p.Gly1862Arg
- rs1659538637
- ClinGen CA341280969
- ClinVar RCV001559884
- ClinVar RCV006272309
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.57
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.49
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available