A53A (p.Ala53Ala) variant of BEST1 (Bestrophin-1)
A53A (p.Ala53Ala) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A53A (p.Ala53Ala) variant details
- p.Ala53Ala
- rs375873874
- gnomAD 11-61955113-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 9.54
- Population evidence available
- Structural context available
- Literature evidence available