T7I (p.Thr7Ile) variant of SF3B1 (Splicing factor 3B subunit 1)
T7I (p.Thr7Ile) 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 0.40 / 1. The record also includes population frequency data and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- rs190499887
- NCI-TCGA Cosmic COSV1001
- NCI-TCGA Cosmic COSV5921
- cosmic curated COSV59214
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.13
- CADD 28.00
- PolyPhen-2 0.54
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available