Y284F (p.Tyr284Phe) variant of BEST1 (Bestrophin-1)
Y284F (p.Tyr284Phe) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
Y284F (p.Tyr284Phe) variant details
- p.Tyr284Phe
- rs727503824
- ClinGen CA380840296
- ClinVar RCV001199442
- Ensembl rs727503824
- Pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.26
- ClinVar: 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)