F39F (p.Phe39Phe) variant of BEST1 (Bestrophin-1)
F39F (p.Phe39Phe) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F39F (p.Phe39Phe) variant details
- p.Phe39Phe
- rs1465926336
- gnomAD 11-61951923-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 18.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available