E9K (p.Glu9Lys) variant of SF3B1 (Splicing factor 3B subunit 1)
E9K (p.Glu9Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- NCI-TCGA Cosmic COSV5920
- cosmic curated COSV59208
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.07
- CADD 26.40
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available