R124W (p.Arg124Trp) variant of SF3B1 (Splicing factor 3B subunit 1)
R124W (p.Arg124Trp) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R124W (p.Arg124Trp) variant details
- p.Arg124Trp
- cosmic curated COSV10812
- NCI-TCGA TCGA novel
- Ensembl rs2085222183
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- CADD 23.70
- PolyPhen-2 0.68
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available