E300D (p.Glu300Asp) variant of BEST1 (Bestrophin-1)
E300D (p.Glu300Asp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E300D (p.Glu300Asp) variant details
- p.Glu300Asp
- rs1805144
- ClinGen CA227841
- ClinVar RCV000086189
- ClinVar RCV001074846
- Pathogenic
- Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.47
- MetaLR 0.93
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.15
- EVE 0.22
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Population evidence available
- Structural context available
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)
- Cited in: Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. (PMID 10453731)