L22L (p.Leu22Leu) variant of BEST1 (Bestrophin-1)
L22L (p.Leu22Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- rs778023643
- gnomAD 11-61951870-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available