E1087K (p.Glu1087Lys) variant of ABCA4 (P78363)
E1087K (p.Glu1087Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Abnormality of the eye; Retinal dystrophy; Severe early-childhood-onset retinal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
E1087K (p.Glu1087Lys) variant details
- p.Glu1087Lys
- rs61751398
- ClinGen CA227097
- ClinVar RCV000085562
- ClinVar RCV001075833
- Pathogenic
- Abnormality of the eye; Retinal dystrophy; Severe early-childhood-onset retinal
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Abnormality of the eye; Retinal dystrophy; Severe early-childhoo)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Cited in: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (PMID 10711710)
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)