T1526M (p.Thr1526Met) variant of ABCA4 (P78363)
T1526M (p.Thr1526Met) 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.
T1526M (p.Thr1526Met) variant details
- p.Thr1526Met
- rs61750152
- ClinGen CA227218
- ClinVar RCV000085656
- ClinVar RCV000177509
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- MetaLR 0.90
- MetaSVM 1.01
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- Structural context available
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)