E98G (p.Glu98Gly) variant of BEST1 (Bestrophin-1)
E98G (p.Glu98Gly) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Vitelliform macular dystrophy 2. The record also includes published literature and structural context.
E98G (p.Glu98Gly) variant details
- p.Glu98Gly
- rs2541362236
- ClinGen CA380834126
- ClinVar RCV002866283
- ClinVar RCV005235669
- Likely pathogenic
- not provided; Vitelliform macular dystrophy 2
- Missense
- ClinVar: Likely pathogenic (not provided; Vitelliform macular dystrophy 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)