T55P (p.Thr55Pro) variant of BEST1 (Bestrophin-1)
T55P (p.Thr55Pro) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T55P (p.Thr55Pro) variant details
- p.Thr55Pro
- gnomAD rs1318209144
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.56
- CADD 10.90
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available