F17L (p.Phe17Leu) variant of BEST1 (Bestrophin-1)
F17L (p.Phe17Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs1940696725
- ClinGen CA380831335
- ClinVar RCV001760875
- gnomAD rs1940696725
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.94
- CADD 21.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Variant of uncertain significance (in VMD2)
- UniProt: Uncertain significance (in VMD2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available