E1022K (p.Glu1022Lys) variant of ABCA4 (P78363)
E1022K (p.Glu1022Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal disorder; ABCA4-related disorder; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E1022K (p.Glu1022Lys) variant details
- p.Glu1022Lys
- rs61749459
- ClinGen CA227078
- ClinVar RCV000085545
- ClinVar RCV000408496
- Pathogenic/Likely pathogenic
- Retinal disorder; ABCA4-related disorder; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- AlphaMissense 0.77
- MetaLR 0.92
- MetaSVM 1.00
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; ABCA4-related disorder; Retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. (PMID 23143460)