T6P (p.Thr6Pro) variant of BEST1 (Bestrophin-1)
T6P (p.Thr6Pro) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T6P (p.Thr6Pro) variant details
- p.Thr6Pro
- rs28940275
- ClinGen CA227736
- ClinVar RCV000002851
- ClinVar RCV000086095
- Pathogenic
- not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.15
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)
- Cited in: Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. (PMID 17698758)