F98L (p.Phe98Leu) variant of BTK (Tyrosine-protein kinase BTK)
F98L (p.Phe98Leu) 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 0.45 / 1. The record also includes structural context.
F98L (p.Phe98Leu) variant details
- p.Phe98Leu
- rs1927036921
- ClinGen CA413938060
- ClinVar RCV001175466
- Ensembl rs1927036921
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.57
- PolyPhen-2 0.99
- SIFT 0.16
- MutPred 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available