F48L (p.Phe48Leu) variant of BEST1 (Bestrophin-1)
F48L (p.Phe48Leu) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- TOPMed rs1281909410
- gnomAD rs1281909410
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.34
- CADD 8.15
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available