K12N (p.Lys12Asn) variant of BTK (Tyrosine-protein kinase BTK)
K12N (p.Lys12Asn) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in XLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- rs782519139
- ClinGen CA413939762
- ClinVar RCV000990919
- ExAC rs782519139
- Likely pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- EBI: Likely pathogenic (in XLA)
- UniProt: Likely pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0176
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)