S34Y (p.Ser34Tyr) variant of MYD88 (Q99836)
S34Y (p.Ser34Tyr) in MYD88 (Q99836) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
S34Y (p.Ser34Tyr) variant details
- p.Ser34Tyr
- rs1319438
- UniProt VAR 072893
- Ensembl rs1319438
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.63
- MetaLR 0.30
- MetaSVM -0.55
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Two human MYD88 variants, S34Y and R98C, interfere with MyD88-IRAK4-myddosome assembly. (PMID 20966070)
- Cited in: Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. (PMID 24316379)