F36I (p.Phe36Ile) variant of BEST1 (Bestrophin-1)
F36I (p.Phe36Ile) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F36I (p.Phe36Ile) variant details
- p.Phe36Ile
- ExAC rs772850879
- gnomAD rs772850879
- Likely pathogenic
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.89
- CADD 21.70
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Likely pathogenic (Retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available