R123G (p.Arg123Gly) variant of SF3B1 (Splicing factor 3B subunit 1)
R123G (p.Arg123Gly) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R123G (p.Arg123Gly) variant details
- p.Arg123Gly
- gnomAD rs1179373486
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.42
- CADD 26.00
- PolyPhen-2 0.56
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available