R28L (p.Arg28Leu) variant of BTK (Tyrosine-protein kinase BTK)
R28L (p.Arg28Leu) 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 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- rs128620185
- ClinGen CA413939515
- ClinVar RCV001389176
- ClinVar RCV006557424
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0678
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)