F17Y (p.Phe17Tyr) variant of BEST1 (Bestrophin-1)
F17Y (p.Phe17Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
F17Y (p.Phe17Tyr) variant details
- p.Phe17Tyr
- rs281865211
- ClinGen CA380831331
- ClinVar RCV001090319
- Ensembl rs281865211
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available