S14C (p.Ser14Cys) variant of BTK (Tyrosine-protein kinase BTK)
S14C (p.Ser14Cys) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- gnomAD rs1057520682
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.86
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.47
- CADD 26.40
- PolyPhen-2 1.00
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.15