L54L (p.Leu54Leu) variant of BEST1 (Bestrophin-1)
L54L (p.Leu54Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs368518407
- gnomAD 11-61955116-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 13.90
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available