I45I (p.Ile45Ile) variant of BEST1 (Bestrophin-1)
I45I (p.Ile45Ile) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I45I (p.Ile45Ile) variant details
- p.Ile45Ile
- rs2134410137
- gnomAD 11-61951941-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 8.34
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available