L75F (p.Leu75Phe) variant of BEST1 (Bestrophin-1)
L75F (p.Leu75Phe) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely 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 population frequency data and structural context.
L75F (p.Leu75Phe) variant details
- p.Leu75Phe
- gnomAD rs1335203485
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.77
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.05
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 2)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available