I94M (p.Ile94Met) variant of BTK (Tyrosine-protein kinase BTK)
I94M (p.Ile94Met) 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 0.50 / 1. The record also includes structural context.
I94M (p.Ile94Met) variant details
- p.Ile94Met
- rs2147444915
- ClinGen CA413938089
- ClinVar RCV001886862
- Ensembl rs2147444915
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.38
- MetaLR 0.45
- MetaSVM -0.13
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available