T33P (p.Thr33Pro) variant of BTK (Tyrosine-protein kinase BTK)
T33P (p.Thr33Pro) 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.
T33P (p.Thr33Pro) variant details
- p.Thr33Pro
- rs128620189
- ClinGen CA255799
- ClinVar RCV000012104
- UniProt VAR 006222
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.94
- MetaLR 0.63
- MetaSVM 0.47
- PolyPhen-2 0.90
- SIFT 0.01
- MutPred 0.76
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0649
- Cited in: Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an… (PMID 7633429)
- Cited in: Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. (PMID 7849721)