D228H (p.Asp228His) variant of BEST1 (Bestrophin-1)
D228H (p.Asp228His) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant vitreoretinochoroidopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D228H (p.Asp228His) variant details
- p.Asp228His
- rs267606676
- ClinGen CA380838733
- ClinVar RCV001057415
- ClinVar RCV002250720
- Likely pathogenic
- Autosomal dominant vitreoretinochoroidopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.71
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.86
- ClinVar: Likely pathogenic (Autosomal dominant vitreoretinochoroidopathy; not provided)
- EBI: Pathogenic (in RP50)
- UniProt: Pathogenic (in RP50)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)