R28C (p.Arg28Cys) variant of BTK (Tyrosine-protein kinase BTK)
R28C (p.Arg28Cys) 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 0.95 / 1. The record also includes experimental measurements, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs1927168815
- ClinGen CA413939518
- NCI-TCGA Cosmic COSV5811
- cosmic curated COSV58117
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0678
- Cited in: Mutations in btk in patients with presumed X-linked agammaglobulinemia. (PMID 9545398)
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)