R166L (p.Arg166Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
R166L (p.Arg166Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R166L (p.Arg166Leu) variant details
- p.Arg166Leu
- gnomAD rs542810619
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.12
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available