T55T (p.Thr55Thr) variant of BEST1 (Bestrophin-1)
T55T (p.Thr55Thr) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T55T (p.Thr55Thr) variant details
- p.Thr55Thr
- gnomAD 11-61955119-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.088
- CADD 1.04
- Population evidence available
- Structural context available
- Literature evidence available