F36L (p.Phe36Leu) variant of BEST1 (Bestrophin-1)
F36L (p.Phe36Leu) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F36L (p.Phe36Leu) variant details
- p.Phe36Leu
- Ensembl rs955214914
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.63
- CADD 15.70
- PolyPhen-2 0.28
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available