L60L (p.Leu60Leu) variant of BEST1 (Bestrophin-1)
L60L (p.Leu60Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L60L (p.Leu60Leu) variant details
- p.Leu60Leu
- gnomAD 11-61955134-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 18.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available