L21L (p.Leu21Leu) variant of BEST1 (Bestrophin-1)
L21L (p.Leu21Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- gnomAD 11-61951869-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 17.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available