T4I (p.Thr4Ile) variant of BEST1 (Bestrophin-1)
T4I (p.Thr4Ile) 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; Macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- rs368383940
- ClinGen CA380830876
- ClinVar RCV001090318
- ClinVar RCV004798885
- Pathogenic/Likely pathogenic
- not provided; Macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Pathogenic/Likely pathogenic (not provided; Macular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available