H35R (p.His35Arg) variant of BTK (Tyrosine-protein kinase BTK)
H35R (p.His35Arg) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H35R (p.His35Arg) variant details
- p.His35Arg
- TOPMed rs1927167257
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.23
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.126