Q58E (p.Gln58Glu) variant of BEST1 (Bestrophin-1)
Q58E (p.Gln58Glu) 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 0.67 / 1. The record also includes published literature and structural context.
Q58E (p.Gln58Glu) variant details
- p.Gln58Glu
- rs1591280478
- ClinGen CA380833534
- ClinVar RCV000988567
- Ensembl rs1591280478
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.15
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.28
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 2)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)