E292Q (p.Glu292Gln) variant of BEST1 (Bestrophin-1)
E292Q (p.Glu292Gln) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
E292Q (p.Glu292Gln) variant details
- p.Glu292Gln
- rs886039311
- ClinGen CA380843621
- ClinVar RCV000655874
- Ensembl rs886039311
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.62
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.29
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)