S34Y (p.Ser34Tyr) variant of U2AF1 (Q01081)
S34Y (p.Ser34Tyr) in U2AF1 (Q01081) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MDS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
S34Y (p.Ser34Tyr) variant details
- p.Ser34Tyr
- rs371769427
- cosmic curated COSV52341
- UniProt VAR 079638
- ESP rs371769427
- Pathogenic
- in MDS
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM 0.08
- EBI: Pathogenic (in MDS)
- UniProt: Pathogenic (in MDS)
- 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)