A53P (p.Ala53Pro) variant of BEST1 (Bestrophin-1)
A53P (p.Ala53Pro) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A53P (p.Ala53Pro) variant details
- p.Ala53Pro
- gnomAD 11-61955109-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available