F39L (p.Phe39Leu) variant of BEST1 (Bestrophin-1)
F39L (p.Phe39Leu) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- TOPMed rs1211789024
- gnomAD rs1211789024
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.95
- CADD 22.10
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available