L14L (p.Leu14Leu) variant of BEST1 (Bestrophin-1)
L14L (p.Leu14Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 11-61951846-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available