I46I (p.Ile46Ile) variant of BEST1 (Bestrophin-1)
I46I (p.Ile46Ile) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I46I (p.Ile46Ile) variant details
- p.Ile46Ile
- gnomAD 11-61951944-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available