L11P (p.Leu11Pro) variant of BTK (Tyrosine-protein kinase BTK)
L11P (p.Leu11Pro) 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 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs1603020228
- ClinGen CA413939777
- ClinVar RCV000806755
- UniProt VAR 006216
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score 0.0169
- Cited in: Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. (PMID 9192269)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)