R18Q (p.Arg18Gln) variant of ABCA4 (P78363)
R18Q (p.Arg18Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs868543294
- ClinGen CA26845219
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV002042187
- Pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.69
- AlphaMissense 0.92
- MetaLR 0.83
- MetaSVM 0.84
- CADD 28.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available