I56T (p.Ile56Thr) variant of BTK (Tyrosine-protein kinase BTK)
I56T (p.Ile56Thr) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- rs1927146374
- ClinGen CA413939045
- ClinVar RCV001235566
- Ensembl rs1927146374
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.91
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.71
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.191