I205T (p.Ile205Thr) variant of BEST1 (Bestrophin-1)
I205T (p.Ile205Thr) 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 not provided; Autosomal dominant vitreoretinochoroidopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
I205T (p.Ile205Thr) variant details
- p.Ile205Thr
- rs267606680
- ClinGen CA252411
- ClinVar RCV000002870
- ClinVar RCV001382239
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant vitreoretinochoroidopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.31
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 0.68
- SIFT 0.06
- EVE 0.18
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant vitreoretinochoroidopathy)
- EBI: Pathogenic (in RP50)
- UniProt: Pathogenic (in RP50)
- Structural context available
- Cited in: Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. (PMID 19853238)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)