R46H (p.Arg46His) variant of BTK (Tyrosine-protein kinase BTK)
R46H (p.Arg46His) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- cosmic curated COSV58123
- gnomAD rs1555980871
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.16
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.127