S34F (p.Ser34Phe) variant of U2AF1 (Q01081)
S34F (p.Ser34Phe) in U2AF1 (Q01081) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as oncogenic in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- rs371769427
- cosmic curated COSV52341
- ClinVar RCV006273212
- UniProt VAR 079637
- Oncogenic
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.70
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM 0.08
- CADD 27.60
- PolyPhen-2 1.00
- ClinVar: Oncogenic (Neoplasm)
- EBI: Pathogenic (in MDS)
- UniProt: Pathogenic (in MDS)
- Population evidence available
- Structural context available
- Cited in: Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. (PMID 22158538)
- Cited in: U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing. (PMID 25311244)