R166Q (p.Arg166Gln) variant of SF3B1 (Splicing factor 3B subunit 1)
R166Q (p.Arg166Gln) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R166Q (p.Arg166Gln) variant details
- p.Arg166Gln
- gnomAD rs542810619
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available