R28H (p.Arg28His) variant of BTK (Tyrosine-protein kinase BTK)
R28H (p.Arg28His) 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 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs128620185
- ClinGen CA255794
- cosmic curated COSV10589
- ClinVar RCV000012101
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- PolyPhen-2 1.00
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0678
- Cited in: A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. (PMID 11445810)
- Cited in: Human genetics. Becoming B cells. (PMID 7678697)