S14F (p.Ser14Phe) variant of BTK (Tyrosine-protein kinase BTK)
S14F (p.Ser14Phe) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes experimental measurements, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs1057520682
- ClinGen CA413939745
- cosmic curated COSV10043
- ClinVar RCV000795113
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.15
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)
- Cited in: Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. (PMID 10612838)