F102S (p.Phe102Ser) variant of BTK (Tyrosine-protein kinase BTK)
F102S (p.Phe102Ser) 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 0.85 / 1. The record also includes structural context.
F102S (p.Phe102Ser) variant details
- p.Phe102Ser
- rs2147444867
- ClinGen CA413938034
- ClinVar RCV001910950
- Ensembl rs2147444867
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available