R1129L (p.Arg1129Leu) variant of ABCA4 (P78363)
R1129L (p.Arg1129Leu) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R1129L (p.Arg1129Leu) variant details
- p.Arg1129Leu
- rs1801269
- ClinGen CA227116
- ClinVar RCV000085576
- ClinVar RCV000408578
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.85
- MetaLR 0.63
- MetaSVM 0.37
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1, CORD3 and RP19)
- UniProt: Pathogenic (in STGD1, CORD3 and RP19)
- Most common in the 1KG:IBS population (allele frequency 0.0096)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt… (PMID 18977788)