R16Q (p.Arg16Gln) variant of SF3B1 (Splicing factor 3B subunit 1)
R16Q (p.Arg16Gln) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- Ensembl rs2106015582
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.14
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available