R1108H (p.Arg1108His) variant of ABCA4 (P78363)
R1108H (p.Arg1108His) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R1108H (p.Arg1108His) variant details
- p.Arg1108His
- rs61750121
- ClinGen CA227109
- ClinVar RCV000085570
- ClinVar RCV001073697
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.84
- MetaLR 0.82
- MetaSVM 0.80
- CADD 25.20
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 8.3e-05)
- 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)