L31L (p.Leu31Leu) variant of BEST1 (Bestrophin-1)
L31L (p.Leu31Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- gnomAD 11-61951897-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 21.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available