S55P (p.Ser55Pro) variant of BTK (Tyrosine-protein kinase BTK)
S55P (p.Ser55Pro) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes experimental measurements and structural context.
S55P (p.Ser55Pro) variant details
- p.Ser55Pro
- rs1603019607
- ClinGen CA413939064
- ClinVar RCV000809057
- Ensembl rs1603019607
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.14
- PolyPhen-2 0.99
- SIFT 0.05
- MutPred 0.64
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.836