S14Y (p.Ser14Tyr) variant of BTK (Tyrosine-protein kinase BTK)
S14Y (p.Ser14Tyr) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes experimental measurements and structural context.
S14Y (p.Ser14Tyr) variant details
- p.Ser14Tyr
- rs1057520682
- ClinGen CA16608230
- NCI-TCGA Cosmic COSV1004
- NCI-TCGA Cosmic COSV5811
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.15