I295T (p.Ile295Thr) variant of BEST1 (Bestrophin-1)
I295T (p.Ile295Thr) 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; 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.
I295T (p.Ile295Thr) variant details
- p.Ile295Thr
- rs281865253
- ClinGen CA227832
- ClinVar RCV000086180
- ClinVar RCV004815161
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Identification of a novel VMD2 mutation in Japanese patients with Best disease. (PMID 12187431)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)