R13Q (p.Arg13Gln) variant of BTK (Tyrosine-protein kinase BTK)
R13Q (p.Arg13Gln) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs868924845
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- TOPMed rs868924845
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.65
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.774