S73F (p.Ser73Phe) variant of SF3B1 (Splicing factor 3B subunit 1)
S73F (p.Ser73Phe) 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 0.37 / 1. The record also includes population frequency data and structural context.
S73F (p.Ser73Phe) variant details
- p.Ser73Phe
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available