I201T (p.Ile201Thr) variant of BEST1 (Bestrophin-1)
I201T (p.Ile201Thr) 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 BEST1-related disorder; Autosomal recessive bestrophinopathy; Autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I201T (p.Ile201Thr) variant details
- p.Ile201Thr
- rs199529046
- ClinGen CA199155
- ClinVar RCV000086141
- ClinVar RCV000169651
- Pathogenic/Likely pathogenic
- BEST1-related disorder; Autosomal recessive bestrophinopathy; Autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.99
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BEST1-related disorder; Autosomal recessive bestrophinopathy; Au)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Population evidence available
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Bestrophinopathies. (PMID 20301346)