R115Q (p.Arg115Gln) variant of SF3B1 (Splicing factor 3B subunit 1)
R115Q (p.Arg115Gln) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R115Q (p.Arg115Gln) variant details
- p.Arg115Gln
- Ensembl rs2085222549
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.48
- CADD 26.70
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available