Q15N (p.Gln15Asn) variant of BTK (Tyrosine-protein kinase BTK)
Q15N (p.Gln15Asn) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
Q15N (p.Gln15Asn) variant details
- p.Gln15Asn
- rs2520695220
- ClinGen CA2580100087
- ClinVar RCV003066347
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.23