T6R (p.Thr6Arg) variant of BEST1 (Bestrophin-1)
T6R (p.Thr6Arg) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
T6R (p.Thr6Arg) variant details
- p.Thr6Arg
- rs281865204
- ClinGen CA227739
- ClinVar RCV000086098
- ClinVar RCV004815143
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)