F39C (p.Phe39Cys) variant of BEST1 (Bestrophin-1)
F39C (p.Phe39Cys) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F39C (p.Phe39Cys) variant details
- p.Phe39Cys
- gnomAD 11-61951922-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.95
- CADD 21.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available