L52L (p.Leu52Leu) variant of BEST1 (Bestrophin-1)
L52L (p.Leu52Leu) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- rs762040678
- gnomAD 11-61955108-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 10.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available