Y40C (p.Tyr40Cys) variant of BTK (Tyrosine-protein kinase BTK)
Y40C (p.Tyr40Cys) 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 0.73 / 1. The record also includes experimental measurements, published literature, and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- rs1555980875
- ClinGen CA413939330
- ClinVar RCV000521066
- ClinVar RCV000707368
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.89
- MetaLR 0.66
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.734
- Cited in: Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients… (PMID 9260159)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)