T237S (p.Thr237Ser) variant of BEST1 (Bestrophin-1)
T237S (p.Thr237Ser) 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 Vitelliform macular dystrophy 2; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
T237S (p.Thr237Ser) variant details
- p.Thr237Ser
- rs2134440586
- ClinGen CA380838932
- ClinVar RCV001972730
- ClinVar RCV004816830
- Pathogenic/Likely pathogenic
- Vitelliform macular dystrophy 2; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic/Likely pathogenic (Vitelliform macular dystrophy 2; Retinal dystrophy; not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available