F17I (p.Phe17Ile) variant of BEST1 (Bestrophin-1)
F17I (p.Phe17Ile) 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 0.85 / 1. The record also includes structural context.
F17I (p.Phe17Ile) variant details
- p.Phe17Ile
- rs1940696088
- ClinGen CA380831322
- ClinVar RCV001241890
- Ensembl rs1940696088
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available