A53S (p.Ala53Ser) variant of BEST1 (Bestrophin-1)
A53S (p.Ala53Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- gnomAD 11-61955111-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.46
- CADD 15.30
- PolyPhen-2 0.41
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available