p.Leu52 Ala53delinsPro variant of BEST1 (Bestrophin-1)
p.Leu52 Ala53delinsPro in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu52 Ala53delinsPro variant details
- gnomAD 11-61955108-CTGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 13.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.0013)
- Structural context available
- Literature evidence available